{"id":17373,"date":"2026-01-22T03:13:13","date_gmt":"2026-01-22T03:13:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17373"},"modified":"2026-07-18T10:01:24","modified_gmt":"2026-07-18T10:01:24","slug":"moebius-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/moebius-syndrome\/","title":{"rendered":"\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u3068\u306f\uff1f\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u9854\u9762\u795e\u7d4c\u9ebb\u75fa\u3092\u89e3\u8aac"},"content":{"rendered":"\n<div style=\"border:1px solid #d9e2ec;background:#f4f8fb;border-radius:8px;padding:20px 24px;margin:0 0 8px;\">\n<p style=\"font-weight:700;font-size:1.05em;margin:0 0 10px;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;line-height:1.9;\">\n<li>\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\uff08\u30e2\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\uff09\u304c\u3069\u3093\u306a\u75be\u60a3\u3067\u3001\u306a\u305c\u8868\u60c5\u304c\u4f5c\u308a\u306b\u304f\u3044\u306e\u304b\u304c\u308f\u304b\u308a\u307e\u3059<\/li>\n<li>\u9854\u9762\u30fb\u773c\u30fb\u53e3\u307e\u308f\u308a\u306a\u3069\u3001\u3042\u3089\u308f\u308c\u3084\u3059\u3044\u75c7\u72b6\u3068\u983b\u5ea6\u3092\u6574\u7406\u3057\u3066\u78ba\u8a8d\u3067\u304d\u307e\u3059<\/li>\n<li>PLXND1\u30fbREV3L\u907a\u4f1d\u5b50\u3084\u8840\u7ba1\u969c\u5bb3\u8aac\u3068\u3044\u3063\u305f\u539f\u56e0\u306e\u8003\u3048\u65b9\u304c\u308f\u304b\u308a\u307e\u3059<\/li>\n<li>\u8a3a\u65ad\u306b\u4f7f\u3046\u691c\u67fb\u3001\u7b11\u9854\u306e\u624b\u8853\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u6cbb\u7642\u3001\u6210\u9577\u306e\u898b\u901a\u3057\u304c\u308f\u304b\u308a\u307e\u3059<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p><strong>\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\uff08\u30e2\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u9854\u9762\u795e\u7d4c\u3068\u5916\u8ee2\u795e\u7d4c\u304c\u5341\u5206\u306b\u50cd\u304b\u305a\u3001\u8868\u60c5\u3092\u4f5c\u308b\u3053\u3068\u3084\u76ee\u3092\u5916\u5074\u306b\u52d5\u304b\u3059\u3053\u3068\u304c\u96e3\u3057\u304f\u306a\u308b\u3001\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u300cM\u00f6bius\uff08\u30e1\u30d3\u30a6\u30b9\uff0f\u30e2\u30d3\u30a6\u30b9\uff09\u300d\u3068\u3044\u3046\u8868\u8a18\u306e\u3086\u308c\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u6307\u3057\u3066\u3044\u308b\u75be\u60a3\u306f\u540c\u3058\u3082\u306e\u3067\u3059\u3002\u77e5\u80fd\u306f\u591a\u304f\u306e\u65b9\u3067\u6b63\u5e38\u306b\u4fdd\u305f\u308c\u3001\u5fc3\u306e\u4e2d\u306f\u307b\u304b\u306e\u4eba\u3068\u540c\u3058\u3088\u3046\u306b\u8c4a\u304b\u3067\u3059\u3002\u3053\u3053\u3067\u306f\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u9806\u306b\u3001\u3054\u5bb6\u65cf\u304c\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u3092\u6574\u7406\u3057\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306f\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577 \u5ca1 \u535a\u53f2\uff08\u533b\u5b66\u535a\u58eb\uff09\u76e3\u4fee\u306e\u3082\u3068\u3001MedlinePlus\u30fbNature Communications\u30fbOrphanet \u306a\u3069\u306e\u516c\u7684\u306a\u533b\u5b66\u60c5\u5831\u3092\u3082\u3068\u306b\u4f5c\u6210\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u3068\u306f<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-1.jpg\" alt=\"\u8d64\u3061\u3083\u3093\u3092\u512a\u3057\u304f\u62b1\u304f\u89aa\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17834\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-1.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-1-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-1-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-1-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306f\u3001\u8133\u304b\u3089\u51fa\u308b\u7b2c6\u8133\u795e\u7d4c\uff08\u5916\u8ee2\u795e\u7d4c\uff09\u3068\u7b2c7\u8133\u795e\u7d4c\uff08\u9854\u9762\u795e\u7d4c\uff09\u304c\u751f\u307e\u308c\u3064\u304d\u50cd\u304d\u306b\u304f\u3044\u305f\u3081\u306b\u3001\u9854\u306e\u52d5\u304d\u3068\u76ee\u306e\u52d5\u304d\u306b\u969c\u5bb3\u304c\u3042\u3089\u308f\u308c\u308b\u75be\u60a3\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u9854\u9762\u795e\u7d4c\u306f\u8868\u60c5\u3092\u4f5c\u308b\u7b4b\u8089\u3092\u3001\u5916\u8ee2\u795e\u7d4c\u306f\u773c\u7403\u3092\u5916\u5074\u3078\u52d5\u304b\u3059\u7b4b\u8089\u3092\u62c5\u5f53\u3057\u307e\u3059\u3002\u3053\u306e2\u3064\u306e\u795e\u7d4c\u304c\u3046\u307e\u304f\u80b2\u305f\u306a\u3044\u305f\u3081\u3001\u7b11\u3046\u30fb\u6012\u308b\u3068\u3044\u3063\u305f\u8868\u60c5\u3084\u3001\u6a2a\u76ee\u3067\u898b\u308b\u52d5\u304d\u304c\u51fa\u306b\u304f\u304f\u306a\u308a\u307e\u3059\u30021888\u5e74\u306b\u30c9\u30a4\u30c4\u306e\u795e\u7d4c\u79d1\u533b\u30d1\u30a6\u30eb\u30fb\u30e6\u30ea\u30a6\u30b9\u30fb\u30e1\u30d3\u30a6\u30b9\u304c\u8a73\u3057\u304f\u5831\u544a\u3057\u3001\u305d\u306e\u540d\u304c\u75c5\u540d\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u5225\u540d\u30fb\u95a2\u9023\u3059\u308b\u547c\u3073\u65b9<\/h3>\n\n\n\n<p>\u533b\u7642\u6a5f\u95a2\u3084\u6587\u732e\u3067\u306f\u3001\u6b21\u306e\u3088\u3046\u306a\u540d\u524d\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u547c\u3073\u65b9\u306f\u9055\u3063\u3066\u3082\u3001\u6307\u3057\u3066\u3044\u308b\u72b6\u614b\u306f\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30e2\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\uff08M\u00f6bius syndrome\uff09\uff1a\u30ab\u30bf\u30ab\u30ca\u8868\u8a18\u306e\u3086\u308c\u3067\u3001\u540c\u3058\u75be\u60a3\u3067\u3059<\/li>\n<li>\u5148\u5929\u6027\u9854\u9762\u9ebb\u75fa\uff08Congenital facial diplegia\uff09<\/li>\n<li>\u5148\u5929\u6027\u773c\u7403\u5916\u8ee2\u9ebb\u75fa\u3092\u4f34\u3046\u9854\u9762\u795e\u7d4c\u9ebb\u75fa<\/li>\n<li>\u30dd\u30fc\u30e9\u30f3\u30c9\u30fb\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\uff1a\u5927\u80f8\u7b4b\u306e\u6b20\u640d\u3092\u4f34\u3046\u30dd\u30fc\u30e9\u30f3\u30c9\u75c7\u5019\u7fa4\u3092\u5408\u4f75\u3059\u308b\u30bf\u30a4\u30d7<\/li>\n<li>Carey-Fineman-Ziter\u75c7\u5019\u7fa4\uff1a\u7b4b\u75c5\u5909\u3084\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u30fb\u30b7\u30fc\u30b1\u30f3\u30b9\u69d8\u306e\u75c7\u72b6\u3092\u4f34\u3046\u95a2\u9023\u75be\u60a3<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u767a\u751f\u983b\u5ea6<\/h3>\n\n\n\n<p>\u51fa\u751f\u6570\u306b\u5bfe\u3059\u308b\u983b\u5ea6\u306f<strong>\u304a\u3088\u305d5\u4e07\u4eba\u301c50\u4e07\u4eba\u306b1\u4eba<\/strong>\u3068\u3055\u308c\u3001\u4e16\u754c\u7684\u306b\u3082\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u3002\u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u540c\u3058\u3088\u3046\u306b\u8d77\u3053\u308a\u307e\u3059\u3002\u65e5\u672c\u56fd\u5185\u306e\u6b63\u78ba\u306a\u7d71\u8a08\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5168\u56fd\u3067\u6570\u767e\u4eba\u304b\u3089\u5343\u4eba\u7a0b\u5ea6\u306e\u60a3\u8005\u3055\u3093\u304c\u3044\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u304c\u5916\u6765\u3067\u304a\u4f1a\u3044\u3059\u308b\u65b9\u306e\u591a\u304f\u306f\u3001\u77e5\u80fd\u306f\u3057\u3063\u304b\u308a\u3068\u4fdd\u305f\u308c\u3066\u3044\u307e\u3059\u3002\u8868\u60c5\u304c\u52d5\u304d\u306b\u304f\u3044\u3053\u3068\u3068\u3001\u5185\u9762\u306e\u8c4a\u304b\u3055\u306f\u5225\u306e\u3082\u306e\u3068\u8003\u3048\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u3068\u3053\u308d\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u75c7\u72b6<\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306f\u300c\u9854\u306e\u52d5\u304d\u300d\u300c\u76ee\u306e\u52d5\u304d\u300d\u300c\u54fa\u4e73\u30fb\u767a\u97f3\u300d\u300c\u624b\u8db3\u306e\u5f62\u300d\u3068\u3044\u3046\u8907\u6570\u306e\u9762\u306b\u3042\u3089\u308f\u308c\u3001\u3069\u306e\u795e\u7d4c\u304c\u3069\u306e\u7a0b\u5ea6\u4fb5\u3055\u308c\u308b\u304b\u3067\u4e00\u4eba\u3072\u3068\u308a\u5909\u308f\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u3042\u3089\u308f\u308c\u3084\u3059\u3044\u75c7\u72b6\u3092\u3001\u4f53\u306e\u9818\u57df\u3054\u3068\u306b\u983b\u5ea6\u306e\u76ee\u5b89\u3068\u3042\u308f\u305b\u3066\u6574\u7406\u3057\u307e\u3057\u305f\u3002\u3059\u3079\u3066\u304c\u5fc5\u305a\u8d77\u3053\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u7d44\u307f\u5408\u308f\u305b\u306f\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u9818\u57df<\/th><th>\u4e3b\u306a\u75c7\u72b6<\/th><th>\u983b\u5ea6\u306e\u76ee\u5b89<\/th><\/tr><\/thead><tbody><tr><td>\u9854\u9762\uff08\u7b2c7\u8133\u795e\u7d4c\uff09<\/td><td>\u8868\u60c5\u304c\u4f5c\u308c\u306a\u3044\u4eee\u9762\u69d8\u9854\u8c8c\u3001\u5bdd\u3066\u3082\u76ee\u304c\u9589\u3058\u304d\u3089\u306a\u3044\u3001\u5507\u3092\u9589\u3058\u306b\u304f\u3044<\/td><td>\u307b\u307c\u5168\u4f8b<\/td><\/tr><tr><td>\u773c\uff08\u7b2c6\u8133\u795e\u7d4c\uff09<\/td><td>\u773c\u7403\u3092\u5916\u5074\u306b\u52d5\u304b\u305b\u306a\u3044\u5916\u8ee2\u9ebb\u75fa\u3001\u5185\u5074\u306b\u5bc4\u308b\u5185\u659c\u8996<\/td><td>\u307b\u307c\u5168\u4f8b<\/td><\/tr><tr><td>\u53e3\u8154\u30fb\u6442\u98df<\/td><td>\u4e73\u5150\u671f\u306e\u54fa\u4e73\u306e\u5f31\u3055\u3001\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\u3001\u30d1\u884c\u30fb\u30de\u884c\u306a\u3069\u5507\u3092\u4f7f\u3046\u97f3\u306e\u4e0d\u660e\u77ad\u3055\u3001\u9ad8\u53e3\u84cb\u30fb\u5c0f\u984e<\/td><td>\u591a\u304f\u306e\u4f8b<\/td><\/tr><tr><td>\u624b\u8db3\u30fb\u9aa8\u683c<\/td><td>\u68cd\u68d2\u8db3\uff08\u5185\u5074\u306b\u306d\u3058\u308c\u308b\u8db3\uff09\u3001\u5408\u6307\u75c7\u3001\u77ed\u6307\u75c7<\/td><td>\u7d0430\u301c40%<\/td><\/tr><tr><td>\u5168\u8eab\u30fb\u5408\u4f75<\/td><td>\u30dd\u30fc\u30e9\u30f3\u30c9\u75c7\u5019\u7fa4\uff08\u7247\u5074\u306e\u5927\u80f8\u7b4b\u6b20\u640d\uff09\u306e\u5408\u4f75\u3001\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/td><td>\u4e00\u90e8<\/td><\/tr><tr><td>\u767a\u9054\u30fb\u77e5\u80fd<\/td><td>\u77e5\u80fd\u306f\u5927\u534a\u304c\u6b63\u5e38\u3002\u8868\u60c5\u3067\u306e\u3084\u308a\u3068\u308a\u304c\u96e3\u3057\u3044\u3053\u3068\u306b\u3088\u308b\u5bfe\u4eba\u9762\u306e\u56f0\u96e3\u3084\u3001ASD\u7684\u50be\u5411\u3092\u4f34\u3046\u4f8b\u3042\u308a<\/td><td>\u77e5\u80fd\u306f\u5927\u534a\u6b63\u5e38<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3068\u304f\u306b\u7279\u5fb4\u7684\u306a\u306e\u306f\u3001<strong>\u6ce3\u3044\u3066\u3044\u308b\u3068\u304d\u3067\u3082\u58f0\u306f\u51fa\u308b\u306e\u306b\u9854\u306f\u52d5\u304b\u306a\u3044<\/strong>\u70b9\u3067\u3059\u3002\u820c\u3092\u52d5\u304b\u3059\u7b2c12\u8133\u795e\u7d4c\uff08\u820c\u4e0b\u795e\u7d4c\uff09\u304c\u4fb5\u3055\u308c\u308b\u3068\u3001\u820c\u304c\u5c0f\u3055\u304f\u52d5\u304d\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u95a2\u9023\u907a\u4f1d\u5b50<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-2.jpg\" alt=\"\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3092\u8868\u3059DNA\u3068\u67d3\u8272\u4f53\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17835\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-2.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-2-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-2-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-2-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u539f\u56e0\u306f\u3072\u3068\u3064\u306b\u5b9a\u307e\u3063\u3066\u304a\u3089\u305a\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3068\u3001\u80ce\u5150\u671f\u306e\u8840\u6d41\u969c\u5bb3\u3068\u3044\u30462\u3064\u306e\u8003\u3048\u65b9\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>2015\u5e74\u306bNature Communications\u3067\u5831\u544a\u3055\u308c\u305f\u7814\u7a76\u3067\u306f\u3001<em>PLXND1<\/em> \u3068 <em>REV3L<\/em> \u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u304c\u3001\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u307e\u3057\u305f\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306f\u3001\u80ce\u5150\u671f\u306e\u8133\u5e79\u3067\u8133\u795e\u7d4c\u304c\u4f5c\u3089\u308c\u3001\u6b63\u3057\u3044\u5834\u6240\u3078\u4f38\u3073\u3066\u3044\u304f\u50cd\u304d\u3092\u652f\u3048\u3066\u3044\u307e\u3059\u3002\u95a2\u4e0e\u304c\u6307\u6458\u3055\u308c\u308b\u4e3b\u306a\u67d3\u8272\u4f53\u9818\u57df\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u67d3\u8272\u4f53\u9818\u57df<\/th><th>\u95a2\u9023\u907a\u4f1d\u5b50<\/th><th>\u50cd\u304d\u30fb\u4f4d\u7f6e\u3065\u3051<\/th><\/tr><\/thead><tbody><tr><td>3\u756a\u67d3\u8272\u4f53\uff083q21-q22\uff09<\/td><td>PLXND1<\/td><td>\u8133\u5e79\u3067\u306e\u795e\u7d4c\u306e\u5f62\u6210\u3068\u4f38\u9577\u3092\u5236\u5fa1<\/td><\/tr><tr><td>13\u756a\u67d3\u8272\u4f53\uff0813q12-q13\uff09<\/td><td>REV3L<\/td><td>DNA\u306e\u4fee\u5fa9\u306b\u95a2\u308f\u308a\u3001\u795e\u7d4c\u767a\u751f\u3092\u652f\u3048\u308b<\/td><\/tr><tr><td>10\u756a\u67d3\u8272\u4f53\uff08MBS1\u9818\u57df\uff09<\/td><td>\u5019\u88dc\u9818\u57df<\/td><td>\u904e\u53bb\u306b\u95a2\u4e0e\u304c\u5831\u544a\u3055\u308c\u305f\u9818\u57df<\/td><\/tr><tr><td>1\u756a\u67d3\u8272\u4f53\uff08MBS3\u9818\u57df\uff09<\/td><td>\u5019\u88dc\u9818\u57df<\/td><td>\u904e\u53bb\u306b\u95a2\u4e0e\u304c\u5831\u544a\u3055\u308c\u305f\u9818\u57df<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u795e\u7d4c\u6838\u304c\u5f62\u6210\u3055\u308c\u306a\u304b\u3063\u305f\u308a\u3001\u795e\u7d4c\u304c\u7b4b\u8089\u307e\u3067\u5c4a\u304b\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u3068\u3001\u4fe1\u53f7\u304c\u9854\u3084\u76ee\u306e\u7b4b\u8089\u306b\u4f1d\u308f\u3089\u305a\u9ebb\u75fa\u304c\u751f\u3058\u307e\u3059\u3002<strong>\u591a\u304f\u306e\u5834\u5408\u306f\u5bb6\u65cf\u306b\u540c\u3058\u75c5\u6c17\u306e\u4eba\u304c\u3044\u306a\u3044\u3001\u7a81\u7136\u306e\u5909\u7570\u3068\u3057\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u3001\u3054\u5bb6\u65cf\u304b\u3089\u300c\u539f\u56e0\u306f\u81ea\u5206\u306b\u3042\u308b\u306e\u304b\u300d\u3068\u554f\u308f\u308c\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u304c\u3001\u8ab0\u304b\u306e\u904e\u3054\u3057\u65b9\u304c\u62db\u3044\u305f\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3082\u3046\u3072\u3068\u3064\u306e\u6709\u529b\u306a\u8aac\u304c\u3001\u80ce\u5150\u671f\u306e\u8840\u7ba1\u969c\u5bb3\u3067\u3059\u3002\u598a\u5a20\u521d\u671f\uff08\u304a\u3088\u305d5\u301c8\u9031\uff09\u306b\u8133\u5e79\u306e\u4e00\u90e8\u3067\u3042\u308b\u6a4b\uff08\u304d\u3087\u3046\uff09\u3078\u306e\u8840\u6d41\u304c\u4e00\u6642\u7684\u306b\u9014\u7d76\u3048\u3001\u795e\u7d4c\u6838\u304c\u80b2\u305f\u306a\u304f\u306a\u308b\u3068\u3044\u3046\u8003\u3048\u65b9\u3067\u3001\u7279\u5b9a\u306e\u85ac\u5264\uff08\u30df\u30bd\u30d7\u30ed\u30b9\u30c8\u30fc\u30eb\u306a\u3069\uff09\u306e\u670d\u7528\u304c\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u3068\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5f53\u30e1\u30c7\u30a3\u30a2\u3067\u306f\u3001\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u5019\u88dc\u9818\u57df\u3068\u91cd\u306a\u308b\u67d3\u8272\u4f53\u3067\u8d77\u3053\u308b\u3001\u5225\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u3082\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u30023\u756a\u67d3\u8272\u4f53\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/3q21-duplication-syndrome\/\">3q21\u91cd\u8907\u75c7\u5019\u7fa4<\/a>\u300113\u756a\u67d3\u8272\u4f53\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/13q12-3-microdeletion-syndrome\/\">13q12.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u300110\u756a\u67d3\u8272\u4f53\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/10q26-deletion-syndrome\/\">10q26\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3044\u305a\u308c\u3082\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u3068\u306f\u5225\u306e\u75be\u60a3\u3067\u3059\u304c\u3001\u67d3\u8272\u4f53\u3092\u7406\u89e3\u3059\u308b\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\">\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u65b9\u6cd5<\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u4e3b\u306b\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u884c\u3044\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u9854\u9762\u795e\u7d4c\u9ebb\u75fa\u3068\u5916\u8ee2\u795e\u7d4c\u9ebb\u75fa\u306e\u4e21\u65b9\u304c\u305d\u308d\u3046\u3053\u3068\u304c\u6c7a\u3081\u624b\u306b\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306f\u51fa\u751f\u76f4\u5f8c\u306b\u3001\u54fa\u4e73\u306e\u5f31\u3055\u3084\u3001\u76ee\u30fb\u9854\u306e\u52d5\u304d\u306e\u69d8\u5b50\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002\u305d\u306e\u3046\u3048\u3067\u753b\u50cf\u691c\u67fb\u3084\u96fb\u6c17\u751f\u7406\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u307b\u304b\u306e\u75be\u60a3\u3068\u898b\u5206\u3051\u3066\u3044\u304d\u307e\u3059\u3002\u4e3b\u306a\u691c\u67fb\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8eab\u4f53\u8a3a\u5bdf\uff1a\u8868\u60c5\u306e\u6b20\u5982\u3068\u3001\u76ee\u306e\u6a2a\u65b9\u5411\u306e\u52d5\u304d\u306e\u6b20\u5982\u304c\u305d\u308d\u3063\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n<li>\u8133MRI\u691c\u67fb\uff1a\u8133\u5e79\uff08\u6a4b\uff09\u304c\u5e73\u5766\u306b\u306a\u3063\u3066\u3044\u306a\u3044\u304b\u3001\u8133\u795e\u7d4c\u306e\u6838\u304c\u6b20\u3051\u3066\u3044\u306a\u3044\u304b\u3092\u8abf\u3079\u307e\u3059<\/li>\n<li>\u7b4b\u96fb\u56f3\u691c\u67fb\uff1a\u9854\u306e\u7b4b\u8089\u306b\u795e\u7d4c\u306e\u4fe1\u53f7\u304c\u5c4a\u3044\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n<li>\u907a\u4f1d\u5b50\u691c\u67fb\uff1a\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306a\u3069\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u307e\u3059\u3002\u305f\u3060\u3057\u5168\u54e1\u3067\u5909\u7570\u304c\u898b\u3064\u304b\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u6cbb\u7642\uff08\u7b11\u9854\u306e\u624b\u8853\u306a\u3069\uff09<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-3.jpg\" alt=\"\u7b11\u9854\u306e\u5b50\u3069\u3082\u3068\u5411\u304d\u5408\u3046\u533b\u5e2b\u306b\u3088\u308b\u6cbb\u7642\u3068\u30b1\u30a2\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17839\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-3.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-3-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-3-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17373-h2-3-768x439.jpg 768w\" sizes=\"(max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u795e\u7d4c\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u624b\u8853\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3067\u8868\u60c5\u3084\u6a5f\u80fd\u3092\u5927\u304d\u304f\u6539\u5584\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u306a\u304b\u3067\u3082\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u306e\u304c\u3001\u8868\u60c5\u3092\u53d6\u308a\u623b\u3059\u300c\u7b11\u9854\u306e\u624b\u8853\u300d\u3067\u3059\u3002\u6cbb\u7642\u306f\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u3066\u7d44\u307f\u7acb\u3066\u307e\u3059\u3002\u65e9\u3044\u6642\u671f\u304b\u3089\u5c02\u9580\u30c1\u30fc\u30e0\u304c\u304b\u304b\u308f\u308b\u3053\u3068\u3067\u3001\u6210\u9577\u306b\u5408\u308f\u305b\u305f\u9078\u629e\u304c\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u7b11\u9854\u306e\u624b\u8853\uff08\u52d5\u7684\u518d\u5efa\u8853\uff09<\/h3>\n\n\n\n<p>\u592a\u3082\u3082\u306e\u7b4b\u8089\uff08\u8584\u7b4b\uff09\u3092\u795e\u7d4c\u30fb\u8840\u7ba1\u3054\u3068\u9854\u306b\u79fb\u690d\u3057\u3001\u565b\u3080\u305f\u3081\u306e\u54ac\u7b4b\u795e\u7d4c\u306b\u3064\u306a\u304e\u5408\u308f\u305b\u307e\u3059\u3002\u5965\u6b6f\u3092\u565b\u307f\u3057\u3081\u308b\u52d5\u304d\u306b\u5408\u308f\u305b\u3066\u53e3\u89d2\u304c\u4e0a\u304c\u308a\u3001<strong>\u81ea\u5206\u306e\u610f\u601d\u3067\u7b11\u9854\u3092\u4f5c\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u8868\u60c5\u3068\u3044\u3046\u58c1\u3092\u8d8a\u3048\u308b\u3001\u5927\u304d\u306a\u4e00\u6b69\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u773c\u79d1\u30fb\u53e3\u8154\u30fb\u6574\u5f62\u5916\u79d1\u306e\u6cbb\u7642<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u773c\u79d1\uff1a\u5185\u659c\u8996\u3092\u6574\u3048\u308b\u659c\u8996\u624b\u8853\u3001\u76ee\u304c\u9589\u3058\u304d\u3089\u306a\u3044\u3053\u3068\u306b\u3088\u308b\u4e7e\u71e5\u3092\u9632\u3050\u70b9\u773c\u3084\u51e6\u7f6e<\/li>\n<li>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\uff1a\u767a\u97f3\u306e\u8a13\u7df4\u3084\u3001\u98f2\u307f\u8fbc\u307f\u306e\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059<\/li>\n<li>\u6b6f\u79d1\u30fb\u77ef\u6b63\uff1a\u3042\u3054\u306e\u5f62\u3084\u6b6f\u4e26\u3073\u306e\u7570\u5e38\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642<\/li>\n<li>\u6574\u5f62\u5916\u79d1\uff1a\u68cd\u68d2\u8db3\u3084\u5408\u6307\u75c7\u306b\u5bfe\u3059\u308b\u77ef\u6b63\u624b\u8853\u30fb\u88c5\u5177\u7642\u6cd5<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u306a\u652f\u63f4<\/h3>\n\n\n\n<p>\u8868\u60c5\u304c\u4f5c\u308c\u306a\u3044\u3068\u300c\u51b7\u305f\u3044\u300d\u300c\u6012\u3063\u3066\u3044\u308b\u300d\u3068\u8aa4\u89e3\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u3001\u8eab\u632f\u308a\u3084\u58f0\u306e\u30c8\u30fc\u30f3\u3001\u81ea\u5206\u306e\u75c7\u72b6\u3092\u5468\u56f2\u306b\u4f1d\u3048\u308b\u5de5\u592b\u304c\u529b\u306b\u306a\u308a\u307e\u3059\u3002\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u60a3\u8005\u4f1a\uff08\u30d4\u30a2\u30b5\u30dd\u30fc\u30c8\uff09\u3078\u306e\u53c2\u52a0\u3082\u3001\u3054\u672c\u4eba\u3068\u3054\u5bb6\u65cf\u306e\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c\u3068\u65e5\u5e38\u751f\u6d3b\u30fb\u652f\u63f4<\/h2>\n\n\n\n<p><strong>\u547c\u5438\u3084\u98f2\u307f\u8fbc\u307f\u306b\u91cd\u3044\u554f\u984c\u304c\u306a\u3051\u308c\u3070\u3001\u5bff\u547d\u306f\u4e00\u822c\u306e\u65b9\u3068\u5909\u308f\u3089\u305a\u3001\u901a\u5e38\u306e\u6559\u80b2\u3084\u5c31\u8077\u3001\u5bb6\u5ead\u3092\u7bc9\u304f\u3053\u3068\u3082\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u7b11\u9854\u306e\u624b\u8853\u3084\u8a00\u8a9e\u7642\u6cd5\u306b\u3088\u3063\u3066\u3001\u751f\u6d3b\u306e\u8cea\u306f\u5927\u304d\u304f\u5411\u4e0a\u3057\u307e\u3059\u3002\u4e73\u5150\u671f\u306f\u54fa\u4e73\u3084\u4f53\u6e29\u30fb\u547c\u5438\u306e\u7ba1\u7406\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u843d\u3061\u7740\u3044\u3066\u3044\u304f\u304a\u5b50\u3055\u3093\u304c\u591a\u304f\u3044\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u75c7\u72b6\u304c\u3042\u308b\u3068\u304d\u306f\u3001\u5c0f\u5150\u79d1\u30fb\u5c0f\u5150\u795e\u7d4c\u79d1\u30fb\u5f62\u6210\u5916\u79d1\u30fb\u773c\u79d1\u306a\u3069\u304c\u9023\u643a\u3059\u308b\u30c1\u30fc\u30e0\u533b\u7642\u306e\u3082\u3068\u3067\u3001\u4e00\u3064\u305a\u3064\u5bfe\u5fdc\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u5468\u56f2\u304c\u3053\u306e\u75be\u60a3\u3092\u6b63\u3057\u304f\u77e5\u308b\u3053\u3068\u304c\u3001\u3054\u672c\u4eba\u304c\u81ea\u5206\u3089\u3057\u304f\u751f\u304d\u308b\u305f\u3081\u306e\u571f\u53f0\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/h2>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u539f\u56e0\u304c\u898b\u3064\u304b\u308b\u4f8b\u306f\u4e00\u90e8\u306b\u3068\u3069\u307e\u308b\u305f\u3081\u3001\u691c\u67fb\u306f\u300c\u8a3a\u65ad\u306e\u88dc\u52a9\u300d\u3068\u4f4d\u7f6e\u3065\u3051\u3066\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306f\u3001\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u81e8\u5e8a\u7684\u306b\u8a3a\u65ad\u3055\u308c\u308b\u306e\u304c\u57fa\u672c\u3067\u3059\u3002<em>PLXND1<\/em> \u3084 <em>REV3L<\/em> 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class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u898b\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/h2>\n\n\n\n<h3 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class=\"wp-block-heading\">\u307e\u3068\u3081<\/h2>\n\n\n\n<p><strong>\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\uff08\u30e2\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u9854\u9762\u795e\u7d4c\u3068\u5916\u8ee2\u795e\u7d4c\u304c\u50cd\u304d\u306b\u304f\u3044\u305f\u3081\u306b\u3001\u8868\u60c5\u3084\u76ee\u306e\u52d5\u304d\u306b\u969c\u5bb3\u304c\u3042\u3089\u308f\u308c\u308b\u3001\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u300c\u611f\u60c5\u304c\u306a\u3044\u300d\u3068\u8aa4\u89e3\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5fc3\u306e\u4e2d\u306f\u307b\u304b\u306e\u4eba\u3068\u540c\u3058\u3088\u3046\u306b\u8c4a\u304b\u3002\u559c\u3073\u3082\u60b2\u3057\u307f\u3082\u3001\u540c\u3058\u3088\u3046\u306b\u611f\u3058\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3001\u305d\u308c\u3092\u9854\u3067\u8868\u3059\u3053\u3068\u304c\u96e3\u3057\u3044\u3060\u3051\u306a\u306e\u3067\u3059\u3002\u7b11\u9854\u306e\u624b\u8853\u3084\u30ea\u30cf\u30d3\u30ea\u3001\u305d\u3057\u3066\u5468\u56f2\u306e\u7406\u89e3\u304c\u3042\u308c\u3070\u3001\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u306e\u65b9\u3005\u306f\u793e\u4f1a\u306e\u306a\u304b\u3067\u81ea\u5206\u3089\u3057\u3044\u4eba\u751f\u3092\u6b69\u3093\u3067\u3044\u3051\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u3092\u6b63\u3057\u304f\u77e5\u308b\u3053\u3068\u304c\u3001\u305d\u306e\u7b2c\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>MedlinePlus Genetics\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09: <a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/moebius-syndrome\/\" target=\"_blank\" rel=\"noopener\">Moebius syndrome<\/a><\/li>\n<li>Tomas-Roca L, et al. (2015). <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/26068067\/\" target=\"_blank\" rel=\"noopener\">De novo mutations in PLXND1 and REV3L cause M\u00f6bius syndrome<\/a>. Nature Communications\uff08PMID: 26068067\uff09<\/li>\n<li>Orphanet: <a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/570\" target=\"_blank\" rel=\"noopener\">Moebius syndrome\uff08ORPHA:570\uff09<\/a><\/li>\n<li>NORD\uff08National Organization for Rare Disorders\uff09: <a href=\"https:\/\/rarediseases.org\/rare-diseases\/moebius-syndrome\/\" target=\"_blank\" rel=\"noopener\">Moebius Syndrome<\/a><\/li>\n<li>Moebius Syndrome Foundation: <a href=\"https:\/\/moebiussyndrome.org\/\" target=\"_blank\" rel=\"noopener\">Education and Resources for Families<\/a><\/li>\n<\/ul>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u30e1\u30d3\u30a6\u30b9\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": 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