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class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306f\u3001<strong>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u30fb\u751f\u6d3b\u3092\u652f\u3048\u308b\u652f\u63f4<\/strong>\u304c\u4e2d\u5fc3\u3067\u3059\u3002<strong>\u5c0f\u5150\u79d1\u3001\u773c\u79d1\u3001\u8840\u6db2\u3001\u30ea\u30cf\u30d3\u30ea\u3001\u6559\u80b2\u306a\u3069\u591a\u304f\u306e\u5206\u91ce\u304c\u9023\u643a\u3057\u3066\u3001\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u898b\u5b88\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u3067\u3001\u904b\u52d5\u3084\u3053\u3068\u3070\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u529b\u3092\u4f38\u3070\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u773c\u79d1\u691c\u8a3a<\/strong>\uff1a\u773c\u93e1\u306a\u3069\u3067\u8fd1\u8996\u3092\u77ef\u6b63\u3057\u3001\u7db2\u819c\u306e\u5909\u5316\u3092\u898b\u5b88\u308a\u307e\u3059\u3002\u8996\u899a\u306e\u652f\u63f4\u3084\u898b\u3048\u306b\u304f\u3055\u306b\u914d\u616e\u3057\u305f\u74b0\u5883\u3065\u304f\u308a\u3082\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u597d\u4e2d\u7403\u6e1b\u5c11\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u5b9a\u671f\u7684\u306b\u8840\u6db2\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u611f\u67d3\u3092\u7e70\u308a\u8fd4\u3059\u5834\u5408\u306a\u3069\u306b\u306f\u3001\u767d\u8840\u7403\u3092\u5897\u3084\u3059\u85ac\u3092\u4f7f\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u53e3\u306e\u4e2d\u306e\u30b1\u30a2<\/strong>\uff1a\u6b6f\u8089\u708e\u3084\u6b6f\u5468\u75c5\u3092\u9632\u3050\u305f\u3081\u3001\u6b6f\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u7ba1\u7406\u304c\u5f79\u7acb\u3061\u307e\u3059<\/li>\n\n\n\n<li><strong>\u4f53\u91cd\u7ba1\u7406<\/strong>\uff1a\u5b66\u7ae5\u671f\u4ee5\u964d\u306e\u80a5\u6e80\u306b\u5099\u3048\u3001\u98df\u4e8b\u3084\u904b\u52d5\u306e\u7fd2\u6163\u3092\u6574\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5c31\u5b66\u30fb\u751f\u6d3b\u306e\u652f\u63f4\u3068\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u7279\u5225\u652f\u63f4\u6559\u80b2\u3084\u798f\u7949\u5236\u5ea6\u306e\u6d3b\u7528\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3092\u542b\u3080\u3054\u5bb6\u65cf\u306e\u652f\u3048\u3082\u5927\u5207\u3067\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>VPS13B<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>VPS13B<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u3054\u592b\u5a66\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u598a\u5a20\u524d\u306b\u77e5\u308a\u305f\u3044\u5834\u5408\u306f\u3001\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3082\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>VPS13B<\/strong>\uff08\u65e7\u79f0 COH1\uff09\u306f\u7d044,000\u30a2\u30df\u30ce\u9178\u304b\u3089\u306a\u308b\u5de8\u5927\u306a\u672b\u68a2\u819c\u305f\u3093\u3071\u304f\u8cea\u3067\u3001<strong>\u30b4\u30eb\u30b8\u4f53\u306b\u5c40\u5728\u3057\u3001\u305d\u306e\u69cb\u9020\u7dad\u6301\u3068\u7cd6\u9396\u4fee\u98fe\u306b\u95a2\u4e0e\u3059\u308b<\/strong>\u3002\u8fd1\u5e74\u306f VPS13 \u30d5\u30a1\u30df\u30ea\u30fc\u5171\u901a\u306e<strong>\u7d30\u80de\u5c0f\u5668\u5b98\u9593\u306e\u8102\u8cea\u8f38\u9001\u3092\u62c5\u3046\u6a4b\u6e21\u3057\u578b\u305f\u3093\u3071\u304f\u8cea<\/strong>\u3068\u3057\u3066\u306e\u6a5f\u80fd\u3082\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u3002\u6a5f\u80fd\u6b20\u5931\u306b\u3088\u308a\u3001\u795e\u7d4c\u7a81\u8d77\u306e\u4f38\u9577\u969c\u5bb3\u3084\u7db2\u819c\u306e\u5909\u6027\u3001\u597d\u4e2d\u7403\u306e\u6e1b\u5c11\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u75c5\u7684\u5909\u5316\u306e\u591a\u304f\u306f\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u306a\u3069\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u3067\u3001\u907a\u4f1d\u5b50\u5168\u4f53\u306b\u6563\u5728\u3057\u3001\u30a8\u30af\u30bd\u30f3\u5358\u4f4d\u306e\u6b20\u5931\u30fb\u91cd\u8907\u3082\u5c11\u306a\u304f\u306a\u3044<\/strong>\u3002\u3053\u306e\u305f\u3081\u3001\u914d\u5217\u89e3\u6790\u306b\u52a0\u3048\u3066\u30b3\u30d4\u30fc\u6570\u89e3\u6790\u3092\u4f75\u7528\u3059\u308b\u3053\u3068\u304c\u8a3a\u65ad\u7387\u306e\u5411\u4e0a\u306b\u91cd\u8981\u3067\u3042\u308b\u3002<strong>\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u3067\u306f\u5275\u59cb\u8005\u5909\u7570\uff08c.3348_3349delCT\uff09\u304c\u591a\u304f\u3001\u6bd4\u8f03\u7684\u5747\u4e00\u306a\u81e8\u5e8a\u50cf\uff08\u5f8c\u5929\u6027\u5c0f\u982d\u75c7\u3001\u7db2\u8108\u7d61\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u597d\u4e2d\u7403\u6e1b\u5c11\uff09\u3092\u793a\u3059<\/strong>\u306e\u306b\u5bfe\u3057\u3001\u4ed6\u306e\u96c6\u56e3\u3067\u306f\u81e8\u5e8a\u50cf\u306e\u3070\u3089\u3064\u304d\u304c\u5927\u304d\u3044\u3002\u30a2\u30fc\u30df\u30c3\u30b7\u30e5\u3084\u30a2\u30a4\u30eb\u30e9\u30f3\u30c9\u7cfb\u79fb\u52d5\u751f\u6d3b\u8005\u306a\u3069\u306b\u3082\u96c6\u7a4d\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>VPS13B \u306f\u672c\u75c7\u5019\u7fa4\u4ee5\u5916\u306e\u660e\u78ba\u306a\u5225\u75be\u60a3\u3092\u307b\u3068\u3093\u3069\u8d77\u3053\u3055\u306a\u3044<\/strong>\u70b9\u3067\u3001\u540c\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u3068\u7570\u306a\u308b\u3002\u540c\u3058 VPS13 \u30d5\u30a1\u30df\u30ea\u30fc\u3067\u3082\u3001<em>VPS13A<\/em> \u306f\u6709\u68d8\u8d64\u8840\u7403\u821e\u8e0f\u75c5\u3001<em>VPS13C<\/em> \u306f\u82e5\u5e74\u767a\u75c7\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u3001<em>VPS13D<\/em> \u306f\u904b\u52d5\u5931\u8abf\u30fb\u75d9\u6027\u9ebb\u75fa\u3092\u8d77\u3053\u3057\u3001<strong>\u305d\u308c\u305e\u308c\u5225\u306e\u907a\u4f1d\u5b50\u30fb\u5225\u306e\u75c5\u6c17\u3067\u3042\u308b<\/strong>\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3068\u80a5\u6e80\u3001\u591a\u304f\u306f\u65b0\u751f\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3067\u518d\u767a\u7387\u306f\u4f4e\u3044\uff09\u3001\u30d0\u30eb\u30c7\u30fc\u30fb\u30d3\u30fc\u30c9\u30eb\u75c7\u5019\u7fa4\uff08\u80a5\u6e80\u3068\u7db2\u819c\u5909\u6027\u3001\u591a\u6307\u3001\u814e\u75c7\u72b6\uff09\u3001\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3001\u8106\u5f31X\u75c7\u5019\u7fa4\u306a\u3069\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u3084\u6b21\u5b50\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>2\u5206\u306e1\u306e\u78ba\u7387\u3067\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u30014\u5206\u306e1\u306e\u78ba\u7387\u3067\u5909\u5316\u3092\u53d7\u3051\u7d99\u304e\u307e\u305b\u3093\u3002<strong>\u4f3c\u305f\u75c7\u72b6\u3092\u793a\u3059\u5225\u306e\u75c5\u6c17\u3068\u306f\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u307b\u3068\u3093\u3069\u7570\u5e38\u304c\u898b\u3064\u304b\u3089\u305a\u3001\u51fa\u751f\u5f8c\u306e\u767a\u9054\u306e\u69d8\u5b50\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u76ee\u306e\u75c7\u72b6\u306f\u3069\u306e\u3088\u3046\u306b\u9032\u307f\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5e7c\u5150\u671f\u304b\u3089\u5f37\u3044\u8fd1\u8996\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7db2\u819c\u306e\u5909\u5316\u306f\u5b66\u7ae5\u671f\u3054\u308d\u304b\u3089\u5c11\u3057\u305a\u3064\u9032\u307f\u307e\u3059\u3002<\/strong>\u6697\u3044\u3068\u3053\u308d\u3067\u898b\u3048\u306b\u304f\u3044\u3001\u8996\u91ce\u304c\u72ed\u304f\u306a\u308b\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u6210\u4eba\u671f\u306b\u8996\u529b\u304c\u5927\u304d\u304f\u4f4e\u4e0b\u3059\u308b\u65b9\u3082\u3044\u307e\u3059\u3002\u9032\u307f\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001<strong>\u5b9a\u671f\u7684\u306a\u773c\u79d1\u691c\u8a3a\u3067\u898b\u5b88\u308a\u3001\u898b\u3048\u306b\u304f\u3055\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u3092\u65e9\u3081\u306b\u6574\u3048\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u306e\u751f\u6d3b\u306f\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u304c\u5bff\u547d\u3092\u5927\u304d\u304f\u7e2e\u3081\u308b\u3053\u3068\u306f\u4e00\u822c\u7684\u3067\u306f\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u8996\u899a\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u5fc5\u8981\u306a\u652f\u63f4\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u7642\u80b2\u3084\u6559\u80b2\u3001\u798f\u7949\u306e\u652f\u63f4\u3092\u53d7\u3051\u306a\u304c\u3089\u3001\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u6210\u9577\u3057\u3001\u7a4f\u3084\u304b\u306b\u66ae\u3089\u3057\u3066\u3044\u308b\u65b9\u3082\u591a\u304f\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Wang H, Falk MJ, Wensel C, Traboulsi EI. Cohen Syndrome. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #216550 Cohen Syndrome; COH1. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Kolehmainen J, Black GC, Saarinen A, et al. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. <em>Am J Hum Genet<\/em>. 2003;72(6):1359-1369.<\/li>\n\n\n\n<li>Kivitie-Kallio S, Norio R. Cohen syndrome: essential features, natural history, and heterogeneity. <em>Am J Med Genet<\/em>. 2001;102(2):125-135.<\/li>\n\n\n\n<li>Chandler KE, Kidd A, Al-Gazali L, et al. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. <em>J Med Genet<\/em>. 2003;40(4):233-241.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147888","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147888","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147888\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147888"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}