{"id":17337,"date":"2026-01-22T02:37:26","date_gmt":"2026-01-22T02:37:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17337"},"modified":"2026-07-18T09:57:42","modified_gmt":"2026-07-18T09:57:42","slug":"hypertrichosis-terminals-generalized-with-or-without-gingival-hyperplasia-htc3","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/hypertrichosis-terminals-generalized-with-or-without-gingival-hyperplasia-htc3\/","title":{"rendered":"\u30a2\u30f3\u30d6\u30e9\u30b9\u75c7\u5019\u7fa4\uff08\u5148\u5929\u6027\u5168\u8eab\u6027\u591a\u6bdb\u75c7\uff09\u3068\u306f\uff1f\u75c7\u72b6\u30fb\u539f\u56e0\u3092\u89e3\u8aac"},"content":{"rendered":"\n<div class=\"wp-block-group\" style=\"border-width:1px;border-color:#cfe3ec;border-radius:8px;padding-top:1.2rem;padding-right:1.2rem;padding-bottom:1.2rem;padding-left:1.2rem\"><div class=\"wp-block-group__inner-container is-layout-flow 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class=\"wp-block-table\"><table><thead><tr><th>\u9805\u76ee<\/th><th>\u5185\u5bb9<\/th><\/tr><\/thead><tbody><tr><td>\u6b63\u5f0f\u540d\u79f0<\/td><td>\u5148\u5929\u6027\u5168\u8eab\u6027\u591a\u6bdb\u75c73\u578b\uff08\u6b6f\u8089\u5897\u6b96\u75c7\u3092\u4f34\u3046\uff0f\u4f34\u308f\u306a\u3044\uff09\uff0fHTC3<\/td><\/tr><tr><td>\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u756a\u53f7<\/td><td>OMIM 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class=\"wp-block-heading\">\u539f\u56e0\u3068\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\uff08ABCA5\u907a\u4f1d\u5b50\u30fb17\u756a\u67d3\u8272\u4f53\uff09<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-1.png\" alt=\"\u907a\u4f1d\u3068\u67d3\u8272\u4f53\u3092\u3084\u308f\u3089\u304b\u3044\u30d1\u30b9\u30c6\u30eb\u8abf\u3067\u8868\u3057\u305f\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17822\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-1.png 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-1-300x171.png 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-1-1024x585.png 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-1-768x439.png 768w\" sizes=\"auto, (max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u539f\u56e0\u306f17\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0817q24.2-24.3\uff09\u306e\u30b3\u30d4\u30fc\u6570\u306e\u5909\u5316\u3084\u3001\u305d\u3053\u306b\u3042\u308bABCA5\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u3067\u306f\u3001\u6b20\u5931\u30fb\u91cd\u8907\u30fb\u9006\u4f4d\u3068\u3044\u3063\u305f\u69cb\u9020\u306e\u5909\u5316\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7814\u7a76\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u5909\u5316\u306b\u3088\u3063\u3066<strong>ABCA5\u907a\u4f1d\u5b50<\/strong>\u306e\u306f\u305f\u3089\u304d\u304c\u640d\u306a\u308f\u308c\u308b\u3053\u3068\u304c\u3001\u591a\u6bdb\u306e\u80cc\u666f\u306b\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002ABCA5\u306f\u7d30\u80de\u306e\u4e2d\u3067\u8102\u8cea\u3084\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u904b\u3076\u300cABC\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u300d\u306e\u4e00\u3064\u3067\u3001\u6bdb\u5305\uff08\u6bdb\u306e\u6839\u5143\uff09\u306e\u7dad\u6301\u306b\u95a2\u308f\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>ABCA5\u306e\u306f\u305f\u3089\u304d\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u3001\u672c\u6765\u306f\u4f11\u6b62\u671f\u306b\u5165\u3063\u3066\u629c\u3051\u308b\u306f\u305a\u306e\u6bdb\u304c\u6210\u9577\u3092\u7d9a\u3051\u3001\u592a\u304f\u9577\u3044\u7d42\u6bdb\u3068\u3057\u3066\u5168\u8eab\u3092\u8986\u3046\u3088\u3046\u306b\u306a\u308b\u3068\u8aac\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7d30\u80de\u5185\u306e\u30ea\u30bd\u30bd\u30fc\u30e0\uff08\u4e0d\u8981\u7269\u3092\u5206\u89e3\u3059\u308b\u5c0f\u5668\u5b98\uff09\u306e\u6a5f\u80fd\u4f4e\u4e0b\u304c\u95a2\u308f\u308b\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u306e\u5f62\u5f0f\u306f\u4e00\u901a\u308a\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u591a\u304f\u306e\u75c7\u4f8b\u3067\u306f<strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong>\u306e\u5f62\u3092\u3068\u308a\u3001\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u3053\u306e\u75be\u60a3\u306e\u5834\u5408\u3001\u304a\u3088\u305d50%\u306e\u78ba\u7387\u3067\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u5bb6\u7cfb\u5185\u306b\u8ab0\u3082\u3044\u306a\u3044\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\u300d\u3068\u3057\u3066\u7a81\u7136\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u52a0\u3048\u3066\u3001ABCA5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5831\u544a\u3082\u3042\u308a\u3001\u539f\u56e0\u306f\u8907\u6570\u306b\u5206\u304b\u308c\u307e\u3059\u3002\u8a73\u3057\u3044\u907a\u4f1d\u5f62\u5f0f\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u3092\u3082\u3068\u306b\u5c02\u9580\u5bb6\u304c\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u4f3c\u305f\u591a\u6bdb\u75c7\u3068\u306e\u9055\u3044<\/h2>\n\n\n\n<p><strong>\u540c\u3058\u300c\u5148\u5929\u6027\u306e\u591a\u6bdb\u75c7\u300d\u3067\u3082\u3001\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u6b63\u3057\u3044\u5206\u985e\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u300c\u30a2\u30f3\u30d6\u30e9\u30b9\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u3066\u304d\u305f\u591a\u6bdb\u75c7\u306f\u3001\u907a\u4f1d\u7684\u306b\u4e00\u3064\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u53e4\u5178\u7684\u306a\u30a2\u30f3\u30d6\u30e9\u30b9\u578b\uff08HTC1\uff09\u306f8\u756a\u67d3\u8272\u4f53\u4e0a\u306eTRPS1\u907a\u4f1d\u5b50\u306e\u4f4d\u7f6e\u52b9\u679c\u304c\u95a2\u308f\u308b\u306e\u306b\u5bfe\u3057\u3001\u3053\u306e\u8a18\u4e8b\u306eHTC3\u306f17\u756a\u67d3\u8272\u4f53\u30fbABCA5\u304c\u95a2\u308f\u308a\u307e\u3059\u3002\u6df7\u540c\u3092\u907f\u3051\u308b\u305f\u3081\u3001\u4e3b\u306a\u9055\u3044\u3092\u8868\u306b\u307e\u3068\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u75be\u60a3<\/th><th>\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u756a\u53f7<\/th><th>\u4e3b\u306a\u539f\u56e0<\/th><th>\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u30a2\u30f3\u30d6\u30e9\u30b9\u578b\uff08HTC1\uff09<\/td><td>OMIM #145701<\/td><td>8\u756a\u67d3\u8272\u4f53\u30fbTRPS1\u306e\u4f4d\u7f6e\u52b9\u679c<\/td><td>\u3084\u308f\u3089\u304b\u3044\u6bdb\u8cea\u306e\u5168\u8eab\u591a\u6bdb\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061<\/td><\/tr><tr><td>HTC3\uff08\u3053\u306e\u8a18\u4e8b\uff09<\/td><td>OMIM #135400<\/td><td>17\u756a\u67d3\u8272\u4f53\uff0817q24.2-24.3\uff09\u30fbABCA5<\/td><td>\u592a\u3044\u7d42\u6bdb\u306e\u5168\u8eab\u591a\u6bdb\u3001\u6b6f\u8089\u5897\u6b96\u3092\u4f34\u3046\uff0f\u4f34\u308f\u306a\u3044<\/td><\/tr><tr><td>\u30d0\u30fc\u30d0\u30fc\u30fb\u30bb\u30a4\u75c7\u5019\u7fa4<\/td><td>OMIM #209885<\/td><td>TWIST2\u907a\u4f1d\u5b50<\/td><td>\u591a\u6bdb\u306b\u52a0\u3048\u76ae\u819a\u306e\u305f\u308b\u307f\u3084\u307e\u3076\u305f\u306e\u7570\u5e38\u3092\u4f34\u3046<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u6bdb\u306e\u304b\u305f\u3061\u3084\u6b6f\u8089\u5897\u6b96\u306e\u6709\u7121\u3001\u4f34\u3046\u75c7\u72b6\u306b\u3088\u3063\u3066\u75be\u60a3\u3092\u898b\u5206\u3051\u307e\u3059\u3002\u4f3c\u305f\u7279\u5fb4\u3092\u3082\u3064\u75be\u60a3\u306b\u3064\u3044\u3066\u3001\u5f53\u30b5\u30a4\u30c8\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/trichorhinophalangeal-syndrome-type-2trps2\/\">TRPS2\uff08\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u306e\u7570\u5e38\u3092\u4f34\u3046\u75c7\u5019\u7fa4\uff09<\/a>\u3084\u3001\u591a\u6bdb\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u306e\u3042\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/coffin-siris-syndrome-1-css1\/\">\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/rubinstein-taybi-syndrome\/\">\u30eb\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u75c7\u5019\u7fa4<\/a>\u3082\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u8a3a\u65ad\u65b9\u6cd5<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-2.jpg\" alt=\"\u533b\u5e2b\u304c\u60a3\u8005\u306b\u3084\u3055\u3057\u304f\u5bc4\u308a\u6dfb\u3063\u3066\u8aac\u660e\u3059\u308b\u8a3a\u5bdf\u306e\u5834\u9762\u306e\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17823\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-2.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-2-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-2-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-2-768x439.jpg 768w\" sizes=\"auto, (max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u5916\u898b\u306e\u78ba\u8a8d\u3068\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u307e\u305a\u5168\u8eab\u306e\u6bdb\u306e\u5206\u5e03\u3084\u6bdb\u8cea\uff08\u7d42\u6bdb\u304b\u3069\u3046\u304b\uff09\u3001\u53e3\u306e\u4e2d\u306e\u6b6f\u8089\u306e\u72b6\u614b\u3092\u8a3a\u5bdf\u3057\u307e\u3059\u3002\u89aa\u65cf\u306b\u540c\u3058\u3088\u3046\u306a\u75c7\u72b6\u306e\u65b9\u304c\u3044\u306a\u3044\u304b\u3001\u5bb6\u65cf\u6b74\u3082\u3066\u3044\u306d\u3044\u306b\u805e\u304d\u53d6\u308a\u307e\u3059\u3002\u305d\u306e\u3046\u3048\u3067\u3001\u78ba\u5b9a\u306e\u305f\u3081\u306b\u907a\u4f1d\u5b66\u7684\u306a\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u89e3\u6790\uff1aABCA5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u8abf\u3079\u308b\u691c\u67fb<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09\uff1a17q24\u9818\u57df\u306e\u5fae\u5c0f\u306a\u6b20\u5931\u30fb\u91cd\u8907\u3092\u8abf\u3079\u308b\u691c\u67fb<\/li>\n\n\n\n<li>\u6b6f\u79d1\u30ec\u30f3\u30c8\u30b2\u30f3\uff1a\u6b6f\u8089\u5897\u6b96\u304c\u6b6f\u306e\u840c\u51fa\u3084\u9aa8\u306b\u5f71\u97ff\u3057\u3066\u3044\u306a\u3044\u304b\u3092\u78ba\u8a8d<\/li>\n<\/ul>\n\n\n\n<p>\u3069\u306e\u691c\u67fb\u3092\u3069\u3053\u307e\u3067\u884c\u3046\u304b\u306f\u3001\u75c7\u72b6\u3084\u5bb6\u65cf\u6b74\u306b\u3088\u3063\u3066\u5909\u308f\u308a\u307e\u3059\u3002\u907a\u4f1d\u5f62\u5f0f\u3084\u518d\u767a\u306e\u53ef\u80fd\u6027\u3092\u6b63\u3057\u304f\u7406\u89e3\u3059\u308b\u305f\u3081\u306b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u671b\u307e\u3057\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u308f\u304b\u308c\u3070\u3001\u5c06\u6765\u306e\u5bb6\u65cf\u8a08\u753b\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u5f71\u97ff\u3092\u8003\u3048\u308b\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u7d50\u679c\u306e\u53d7\u3051\u6b62\u3081\u65b9\u306f\u4eba\u305d\u308c\u305e\u308c\u3002\u3054\u672c\u4eba\u3084\u3054\u5bb6\u65cf\u306e\u6c17\u6301\u3061\u306b\u5bc4\u308a\u6dfb\u3044\u3001\u5fc5\u8981\u306a\u60c5\u5831\u3092\u4e00\u3064\u305a\u3064\u6574\u7406\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5927\u5207\u306a\u5f79\u5272\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u3068\u30b1\u30a2<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1344\" height=\"768\" src=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-3.jpg\" alt=\"\u4e21\u624b\u3067\u5fc3\u3092\u3042\u305f\u305f\u304b\u304f\u5305\u307f\u8fbc\u3080\u30b1\u30a2\u3068\u652f\u3048\u3092\u8868\u3057\u305f\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-17824\" srcset=\"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-3.jpg 1344w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-3-300x171.jpg 300w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-3-1024x585.jpg 1024w, https:\/\/www.hiro-clinic.or.jp\/gene\/wp-content\/uploads\/2026\/07\/17337-h2-3-768x439.jpg 768w\" sizes=\"auto, (max-width: 1344px) 100vw, 1344px\" \/><\/figure><\/div>\n\n\n<p><strong>\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u6cbb\u7642\u306f\u306a\u304f\u3001\u591a\u6bdb\u30fb\u6b6f\u8089\u30fb\u5fc3\u7406\u9762\u3078\u306e\u30b1\u30a2\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u3064\u3089\u3055\u3084\u751f\u6d3b\u3078\u306e\u5f71\u97ff\u306f\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u3054\u672c\u4eba\u306e\u5e0c\u671b\u3092\u5c0a\u91cd\u3057\u306a\u304c\u3089\u3001\u6b21\u306e\u3088\u3046\u306a\u5bfe\u5fdc\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/p>\n\n\n\n<h3 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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\/\">\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\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><a href=\"https:\/\/www.omim.org\/entry\/135400\" target=\"_blank\" rel=\"noopener\">OMIM. #135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, 3, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3<\/a>.\uff08\u672c\u75be\u60a3\u306e\u516c\u5f0f\u306a\u907a\u4f1d\u5b66\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09<\/li>\n\n\n\n<li><a href=\"https:\/\/www.omim.org\/entry\/145701\" target=\"_blank\" rel=\"noopener\">OMIM. #145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1<\/a>.\uff08\u30a2\u30f3\u30d6\u30e9\u30b9\u578b\u591a\u6bdb\u75c7\u306e\u5206\u985e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09<\/li>\n\n\n\n<li><a href=\"https:\/\/www.omim.org\/entry\/612503\" target=\"_blank\" rel=\"noopener\">OMIM. *612503 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 5; ABCA5<\/a>.\uff08\u539f\u56e0\u907a\u4f1d\u5b50ABCA5\u306e\u60c5\u5831\uff09<\/li>\n\n\n\n<li><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC2694973\/\" target=\"_blank\" rel=\"noopener\">Sun M, et al. Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia. Am J Hum Genet. 2009.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24831815\/\" target=\"_blank\" rel=\"noopener\">DeStefano GM, et al. Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth. 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