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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>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u3001<strong>\u6210\u9577\u3068\u767a\u9054\u3092\u652f\u3048\u308b\u7642\u80b2\u3092\u65e9\u304f\u304b\u3089\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4fbf\u79d8\u30fb\u9396\u809b\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u98df\u4e8b\u3084\u85ac\u306b\u3088\u308b\u6392\u4fbf\u306e\u7ba1\u7406\u3001\u9396\u809b\u304c\u3042\u308b\u5834\u5408\u306f\u5916\u79d1\u624b\u8853\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u7642\u80b2<\/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\u306e\u767a\u9054\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u9762\u30fb\u5b66\u7fd2\u9762\u306e\u652f\u63f4<\/strong>\uff1a\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u4fdd\u80b2\u30fb\u6559\u80b2\u74b0\u5883\u3092\u6574\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u304c\u3042\u308b\u5834\u5408\u306e\u6cbb\u7642<\/strong>\uff1a\u6297\u3066\u3093\u304b\u3093\u85ac\u306a\u3069\u3067\u767a\u4f5c\u3092\u6291\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u30fb\u8840\u7ba1\u306e\u78ba\u8a8d<\/strong>\uff1aFLNA \u907a\u4f1d\u5b50\u306f\u5fc3\u81d3\u306e\u5f01\u3084\u8840\u7ba1\u306b\u3082\u95a2\u308f\u308b\u305f\u3081\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u691c\u67fb\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/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>FLNA<\/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>FLNA<\/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\">X\u9023\u9396\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u304a\u6bcd\u3055\u307e\u304c\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u7537\u306e\u5b50\u306e2\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u4e8b\u524d\u306b\u77e5\u308b\u3053\u3068\u3067\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\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>FLNA<\/strong> \u304c\u30b3\u30fc\u30c9\u3059\u308b\u30d5\u30a3\u30e9\u30df\u30f3A\u306f\u3001N\u672b\u7aef\u306e\u30a2\u30af\u30c1\u30f3\u7d50\u5408\u30c9\u30e1\u30a4\u30f3\u306824\u500b\u306e\u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u69d8\u30ea\u30d4\u30fc\u30c8\u304b\u3089\u306a\u308b<strong>\u5927\u578b\u306e\u7d30\u80de\u9aa8\u683c\u305f\u3093\u3071\u304f\u8cea<\/strong>\u3067\u3001\u4e8c\u91cf\u4f53\u3092\u5f62\u6210\u3057\u3066\u30a2\u30af\u30c1\u30f3\u7dda\u7dad\u3092\u76f4\u4ea4\u67b6\u6a4b\u3057\u3001\u30a4\u30f3\u30c6\u30b0\u30ea\u30f3\u306a\u3069\u591a\u6570\u306e\u819c\u305f\u3093\u3071\u304f\u8cea\u3084\u30b7\u30b0\u30ca\u30eb\u5206\u5b50\u3068\u76f8\u4e92\u4f5c\u7528\u3059\u308b\u3002\u795e\u7d4c\u7d30\u80de\u79fb\u52d5\u3001\u8840\u7ba1\u30fb\u5fc3\u81d3\u5f01\u306e\u5f62\u6210\u3001\u9aa8\u683c\u5f62\u6210\u3001\u5e73\u6ed1\u7b4b\u6a5f\u80fd\u306b\u95a2\u4e0e\u3059\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u672c\u907a\u4f1d\u5b50\u306f\u5909\u7570\u306e\u7a2e\u985e\u306b\u3088\u308a\u8868\u73fe\u578b\u304c\u5927\u304d\u304f\u5206\u304b\u308c\u308b<\/strong>\u2014\u2014<strong>\u2460\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u306f\u8133\u5ba4\u5468\u56f2\u7d50\u7bc0\u6027\u7570\u6240\u6027\u7070\u767d\u8cea\uff08X\u9023\u9396\u9855\u6027\u3001\u4e3b\u306b\u5973\u6027\u306b\u767a\u75c7\u3057\u3001\u7537\u6027\u30d8\u30df\u63a5\u5408\u4f53\u306f\u591a\u304f\u304c\u80ce\u751f\u81f4\u6b7b\uff09\u3084\u5fc3\u81d3\u5f01\u7570\u5f62\u6210\u3001\u8178\u7ba1\u507d\u6027\u9589\u585e\u3092\u8d77\u3053\u3057\u3001\u2461\u7279\u5b9a\u9818\u57df\u306b\u96c6\u4e2d\u3059\u308b\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08\u6a5f\u80fd\u7372\u5f97\u578b\u3068\u8003\u3048\u3089\u308c\u308b\uff09\u306f\u8033\u53e3\u84cb\u6307\u75c7\u5019\u7fa4\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u8033\u53e3\u84cb\u6307\u75c7\u5019\u7fa41\u578b\u30fb2\u578b\u3001\u524d\u982d\u9aa8\u5e79\u7aef\u7570\u5f62\u6210\u75c7\u3001\u30e1\u30eb\u30cb\u30c3\u30af\u30fb\u30cb\u30fc\u30c9\u30eb\u30ba\u75c7\u5019\u7fa4\uff09\u3092\u8d77\u3053\u3059<\/strong>\u3002<strong>FG\u75c7\u5019\u7fa42\u578b\u306f\u3001FG\u75c7\u5019\u7fa4\u69d8\u306e\u8868\u73fe\u578b\u3092\u793a\u3059\u5bb6\u7cfb\u3067 FLNA \u306e\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u305f\u3053\u3068\u306b\u3088\u308a\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u305f\u578b<\/strong>\u3067\u3042\u308a\u3001\u5831\u544a\u4f8b\u306f\u304d\u308f\u3081\u3066\u5c11\u306a\u304f\u3001\u8868\u73fe\u578b\u306e\u7bc4\u56f2\u3084\u65e2\u77e5\u306e FLNA \u95a2\u9023\u75be\u60a3\u3068\u306e\u5883\u754c\u306f\u306a\u304a\u691c\u8a0e\u306e\u9014\u4e0a\u306b\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">FG\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u7684\u306b\u4e0d\u5747\u4e00\u3067\u3001\u9451\u5225\u3068\u3057\u3066\u306f<strong>FG\u75c7\u5019\u7fa41\u578b\uff08\u30aa\u30d4\u30c3\u30c4\u30fb\u30ab\u30d9\u30c3\u30b8\u30a2\u75c7\u5019\u7fa4\u3001<em>MED12<\/em> \u306e\u53cd\u5fa9\u5909\u7570 p.R961W\uff09<\/strong>\u3001\u30eb\u30b8\u30e3\u30f3\u30fb\u30d5\u30ea\u30f3\u30b9\u75c7\u5019\u7fa4\uff08<em>MED12<\/em>\uff09\u3001<em>CASK<\/em> \u95a2\u9023\u75be\u60a3\u306a\u3069\u306e X\u9023\u9396<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u75c7\u5019\u7fa4\u3001\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u6b20\u5931\u30fb\u91cd\u8907\u304c\u6319\u304c\u308b\u3002<strong>\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u968f\u4f34\u75c7\u72b6\uff08\u3066\u3093\u304b\u3093\u3001\u8133\u306e\u5f62\u6210\u7570\u5e38\u3001\u5fc3\u8840\u7ba1\u5408\u4f75\u75c7\uff09\u306e\u898b\u901a\u3057\u3084\u5973\u6027\u30ad\u30e3\u30ea\u30a2\u306e\u75c7\u72b6\u306e\u6709\u7121\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong>\u306a\u304a\u3001\u5973\u6027\u30ad\u30e3\u30ea\u30a2\u3067\u306fX\u67d3\u8272\u4f53\u4e0d\u6d3b\u5316\u306e\u504f\u308a\u306b\u3088\u308a\u8efd\u3044\u75c7\u72b6\u3092\u793a\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001FLNA \u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u3067\u306f\u5973\u6027\u306b\u7570\u6240\u6027\u7070\u767d\u8cea\u304c\u751f\u3058\u3046\u308b\u70b9\u306b\u3082\u7559\u610f\u3059\u308b\u3002<\/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\u306fX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u7537\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u3001\u5973\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u3067\u3001\u304a\u5b50\u3055\u307e\u306b\u65b0\u305f\u306b\u751f\u3058\u305f\u5909\u5316\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u306b\u3088\u308b\u5834\u5408\u306f\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3059\u3002<strong>\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3067\u898b\u901a\u3057\u304c\u5927\u304d\u304f\u5909\u308f\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u3066\u78ba\u8a8d\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>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3001\u591a\u304f\u306f\u751f\u307e\u308c\u305f\u3042\u3068\u306b\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/strong>\u3054\u5bb6\u65cf\u3067\u3059\u3067\u306b FLNA \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\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. FG\u75c7\u5019\u7fa41\u578b\u3084\u3001\u540c\u3058\u907a\u4f1d\u5b50\u306e\u307b\u304b\u306e\u75c5\u6c17\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>1\u578b\u306f MED12 \u907a\u4f1d\u5b50\u30012\u578b\u306f FLNA \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001\u75c7\u72b6\u306f\u4f3c\u3066\u3044\u3066\u3082\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u307e\u305f FLNA \u907a\u4f1d\u5b50\u306f\u3001\u5909\u5316\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u3001\u4e3b\u306b\u5973\u6027\u306b\u8133\u306e\u5f62\u6210\u7570\u5e38\u3068\u3066\u3093\u304b\u3093\u3092\u8d77\u3053\u3059\u75c5\u6c17\u3084\u3001\u9aa8\u3084\u9854\u7acb\u3061\u306b\u7279\u5fb4\u304c\u51fa\u308b\u75c5\u6c17\u3082\u8d77\u3053\u3057\u307e\u3059\u3002<strong>\u3069\u306e\u75c5\u6c17\u306b\u3042\u305f\u308b\u304b\u3067\u5fc5\u8981\u306a\u691c\u67fb\u3084\u898b\u901a\u3057\u304c\u5909\u308f\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306e\u5185\u5bb9\u3092\u5c02\u9580\u533b\u3068\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u30ad\u30e3\u30ea\u30a2\u306e\u304a\u6bcd\u3055\u3093\u306b\u75c7\u72b6\u306f\u51fa\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u591a\u304f\u306f\u75c7\u72b6\u304c\u3042\u308a\u307e\u305b\u3093\u304c\u3001X\u67d3\u8272\u4f53\u306e\u306f\u305f\u3089\u304d\u65b9\u306e\u504f\u308a\u306b\u3088\u3063\u3066\u3001\u8efd\u3044\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>FLNA \u907a\u4f1d\u5b50\u306e\u5909\u5316\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u306f\u3001\u5973\u6027\u306b\u8133\u306e\u5f62\u6210\u7570\u5e38\u3084\u3066\u3093\u304b\u3093\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308b\u305f\u3081\u3001\u6c17\u306b\u306a\u308b\u75c7\u72b6\u304c\u3042\u308c\u3070\u533b\u5e2b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\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>OMIM #300321 FG syndrome 2; FGS2. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Unger S, Mainberger A, Spitz C, et al. Filamin A mutation is one cause of FG syndrome. <em>Am J Med Genet A<\/em>. 2007;143A(16):1876-1879.<\/li>\n\n\n\n<li>Robertson SP, Twigg SR, Sutherland-Smith AJ, et al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. <em>Nat Genet<\/em>. 2003;33(4):487-491.<\/li>\n\n\n\n<li>Risheg H, Graham JM Jr, Clark RD, et al. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. <em>Nat Genet<\/em>. 2007;39(4):451-453.<\/li>\n\n\n\n<li>Robertson SP. Otopalatodigital Spectrum Disorders. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147979","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\/147979","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\/147979\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147979"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}