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class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001<strong>RPS6KA3<\/strong> \u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u307e\u3068\u307e\u3063\u3066\u6b20\u3051\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308b\u305f\u3081\u3001\u691c\u67fb\u65b9\u6cd5\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<strong>\u304a\u6bcd\u3055\u307e\u304c\u5909\u5316\u3092\u6301\u3063\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3067\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u304c\u5927\u304d\u304f\u5909\u308f\u308b\u305f\u3081\u3001\u539f\u56e0\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p 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>\u65e9\u3044\u6642\u671f\u304b\u3089\u306e\u7642\u80b2\u30fb\u751f\u6d3b\u306e\u652f\u63f4<\/strong>\u306b\u3088\u3063\u3066\u3001\u304a\u5b50\u3055\u307e\u306e\u529b\u3092\u4f38\u3070\u3057\u3001\u66ae\u3089\u3057\u3084\u3059\u3055\u3092\u9ad8\u3081\u308b\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2<\/strong>\uff1a\u8a00\u8a9e\u7642\u6cd5\u30fb\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u306a\u3069\u3067\u767a\u9054\u3092\u652f\u3048\u307e\u3059\u3002\u3053\u3068\u3070\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u8eab\u3076\u308a\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u306e\u4f1d\u3048\u308b\u624b\u6bb5\u3082\u6d3b\u7528\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8074\u529b\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d<\/strong>\uff1a\u96e3\u8074\u304c\u3042\u308c\u3070\u88dc\u8074\u5668\u306a\u3069\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u80cc\u9aa8\u306e\u5909\u5f62\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u5b9a\u671f\u7684\u306b\u7d4c\u904e\u3092\u307f\u3066\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88c5\u5177\u3084\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8131\u529b\u767a\u4f5c\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u85ac\u3067\u767a\u4f5c\u304c\u8efd\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u8ee2\u5012\u306b\u3088\u308b\u3051\u304c\u3092\u9632\u3050\u5de5\u592b\u3082\u5927\u5207\u3067\u3059<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u306e\u5b9a\u671f\u691c\u67fb<\/strong>\uff1a\u5fc3\u81d3\u306e\u5f01\u3084\u5fc3\u7b4b\u306e\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u798f\u7949\u5236\u5ea6\u306e\u5229\u7528\u3084\u3001\u5b66\u6821\u30fb\u5730\u57df\u3068\u306e\u9023\u643a\u3092\u542b\u3081\u3001\u7d99\u7d9a\u7684\u306b\u652f\u3048\u307e\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>RPS6KA3<\/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\u306e2\u3064\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>RPS6KA3<\/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\">\u3053\u306e\u75be\u60a3\u306fX\u9023\u9396\u6027\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>\u304a\u6bcd\u3055\u307e\u304c RPS6KA3 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u7537\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059<\/strong>\uff08\u5973\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u5909\u5316\u3092\u53d7\u3051\u7d99\u304e\u3001\u75c7\u72b6\u304c\u306a\u3044\u304b\u8efd\u3044\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09\u3002\u305f\u3060\u3057\u3001\u3053\u306e\u75be\u60a3\u306e\u591a\u304f\u306f\u304a\u5b50\u3055\u307e\u306e\u4ee3\u3067\u65b0\u305f\u306b\u8d77\u304d\u305f\u5909\u5316\u306b\u3088\u308b\u3082\u306e\u3067\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>RPS6KA3<\/strong>\uff08Xp22.12\uff09\u306f\u3001Ras-MAPK \u7d4c\u8def\u306e\u4e0b\u6d41\u3067 ERK \u306b\u3088\u308a\u6d3b\u6027\u5316\u3055\u308c\u308b\u30bb\u30ea\u30f3\uff0f\u30b9\u30ec\u30aa\u30cb\u30f3\u30ad\u30ca\u30fc\u30bc <strong>RSK2<\/strong> \u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002RSK2 \u306f N \u672b\u7aef\u30fbC \u672b\u7aef\u306e2\u3064\u306e\u30ad\u30ca\u30fc\u30bc\u30c9\u30e1\u30a4\u30f3\u3092\u6301\u3061\u3001<strong>CREB \u3084\u30d2\u30b9\u30c8\u30f3 H3 \u306a\u3069\u306e\u30ea\u30f3\u9178\u5316\u3092\u4ecb\u3057\u3066\u8ee2\u5199\u3092\u5236\u5fa1<\/strong>\u3059\u308b\u3002\u6d77\u99ac\u3067\u306e\u8a18\u61b6\u5f62\u6210\u3084\u3001\u9aa8\u82bd\u7d30\u80de\u306e\u5206\u5316\uff08ATF4 \u306e\u30ea\u30f3\u9178\u5316\uff09\u3078\u306e\u95a2\u4e0e\u304c\u793a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u306f\u30df\u30b9\u30bb\u30f3\u30b9\u3001\u30ca\u30f3\u30bb\u30f3\u30b9\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u3001\u30b9\u30d7\u30e9\u30a4\u30b9\u7570\u5e38\u3001\u6b20\u5931\u306a\u3069\u591a\u69d8\u3067\u3001<strong>\u907a\u4f1d\u5b50\u5168\u4f53\u306b\u6563\u5728\u3057\u3001\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u306f\u306a\u3044<\/strong>\u3002<strong>\u30b3\u30d5\u30a3\u30f3\u30fb\u30ed\u30fc\u30ea\u30fc\u75c7\u5019\u7fa4\u306e\u591a\u304f\u306f\u30ad\u30ca\u30fc\u30bc\u6d3b\u6027\u304c\u307b\u307c\u5931\u308f\u308c\u308b\u6a5f\u80fd\u55aa\u5931\u578b<\/strong>\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001<strong>\u6b8b\u5b58\u6d3b\u6027\u3092\u4fdd\u3064\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3067\u306f\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u3092\u4f34\u308f\u306a\u3044\u975e\u75c7\u5019\u7fa4\u6027X\u9023\u9396\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08MRX19\uff09\u3092\u5448\u3057\u3046\u308b<\/strong>\u3002\u65b0\u751f\u7a81\u7136\u5909\u7570\u304c\u7d047\u301c8\u5272\u3092\u5360\u3081\u308b\u304c\u3001<strong>\u6bcd\u4f53\u306e\u6027\u817a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u5831\u544a\u3082\u3042\u308a\u3001\u6bcd\u89aa\u306e\u89e3\u6790\u3067\u5909\u7570\u304c\u898b\u3064\u304b\u3089\u306a\u304f\u3066\u3082\u6b21\u5b50\u518d\u767a\u7387\u306f\u30bc\u30ed\u3068\u306f\u3044\u3048\u306a\u3044<\/strong>\u3002\u5973\u6027\u4fdd\u56e0\u8005\u306e\u8868\u73fe\u578b\u306f X \u67d3\u8272\u4f53\u4e0d\u6d3b\u5316\u306e\u504f\u308a\u306b\u5f71\u97ff\u3055\u308c\u3001\u6b63\u5e38\u304b\u3089\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u9854\u8c8c\u306e\u7279\u5fb4\u307e\u3067\u5e45\u304c\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u523a\u6fc0\u8a98\u767a\u6027\u8131\u529b\u767a\u4f5c\u306f\u672c\u75c7\u306e\u7d042\u5272\u306b\u307f\u3089\u308c\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u306f\u7570\u306a\u308b\u75c5\u614b\u3068\u3055\u308c\u308b\u3002\u9032\u884c\u3059\u308b\u3068\u8ee2\u5012\u3092\u6050\u308c\u3066\u8eca\u6905\u5b50\u3092\u8981\u3059\u308b\u3053\u3068\u3082\u3042\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u8106\u5f31X\u75c7\u5019\u7fa4\uff08<em>FMR1<\/em>\uff09\u3001ATR-X \u75c7\u5019\u7fa4\uff08<em>ATRX<\/em>\uff09\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\uff087q11.23 \u6b20\u5931\uff09\u3001\u30dc\u30eb\u30a4\u30a7\u30bd\u30f3\u30fb\u30d5\u30a9\u30eb\u30b9\u30de\u30f3\u30fb\u30ec\u30fc\u30de\u30f3\u75c7\u5019\u7fa4\uff08<em>PHF6<\/em>\uff09\u306a\u3069\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u3084\u518d\u767a\u7387\u304c\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>\u304a\u6bcd\u3055\u307e\u304c\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306f\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\u5909\u5316\u3092\u53d7\u3051\u7d99\u304e\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u3001\u591a\u304f\u306f\u304a\u5b50\u3055\u307e\u306e\u4ee3\u3067\u65b0\u305f\u306b\u8d77\u304d\u305f\u5909\u5316\u3067\u3001\u305d\u306e\u5834\u5408\u306e\u518d\u767a\u7387\u306f\u4f4e\u304f\u306a\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5375\u5b50\u306e\u3082\u3068\u306b\u306a\u308b\u7d30\u80de\u306b\u3060\u3051\u5909\u5316\u304c\u3042\u308b\uff08\u6027\u817a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\uff09\u53ef\u80fd\u6027\u3082\u3042\u308b\u305f\u3081\u3001<strong>\u30bc\u30ed\u3068\u306f\u8a00\u3044\u5207\u308c\u307e\u305b\u3093\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\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\u898b\u3064\u304b\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u691c\u67fb\u3067\u8abf\u3079\u308b\u3053\u3068\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. \u5973\u306e\u5b50\u3067\u3082\u75c7\u72b6\u304c\u51fa\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3001\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<strong>\u5973\u306e\u5b50\u3067\u306f\u75c7\u72b6\u304c\u307e\u3063\u305f\u304f\u306a\u3044\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u8efd\u3044\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3084\u9854\u7acb\u3061\u306e\u7279\u5fb4\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u4e00\u822c\u306b\u7537\u306e\u5b50\u3088\u308a\u8efd\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6025\u306b\u5012\u308c\u308b\u767a\u4f5c\u304c\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u7a81\u7136\u306e\u97f3\u3084\u9a5a\u304d\u3092\u304d\u3063\u304b\u3051\u306b\u4f53\u306e\u529b\u304c\u629c\u3051\u3066\u5012\u308c\u308b\u767a\u4f5c\u304c\u3001\u5b66\u7ae5\u671f\u304b\u3089\u601d\u6625\u671f\u3054\u308d\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u85ac\u3067\u8efd\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u8ee2\u5012\u306b\u3088\u308b\u3051\u304c\u3092\u9632\u3050\u5de5\u592b\u3082\u542b\u3081\u3001\u4e3b\u6cbb\u533b\u3068\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>Hanauer A, Young ID. Coffin-Lowry Syndrome. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #303600 Coffin-Lowry syndrome; CLS. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Trivier E, De Cesare D, Jacquot S, et al. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. <em>Nature<\/em>. 1996;384(6609):567-570.<\/li>\n\n\n\n<li>Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A. Coffin-Lowry syndrome. <em>Eur J Hum Genet<\/em>. 2010;18(6):627-633.<\/li>\n\n\n\n<li>Merienne K, Jacquot S, Pannetier S, et al. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. <em>Nat Genet<\/em>. 1999;22(1):13-14.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147881","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\/147881","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\/147881\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147881"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}