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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>EVC2<\/strong> \u307e\u305f\u306f <strong>EVC<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002\u75c7\u72b6\u304b\u3089\u3053\u306e\u75c5\u6c17\u304c\u5f37\u304f\u7591\u308f\u308c\u3066\u3082\u3001\u4e00\u90e8\u306e\u304a\u5b50\u3055\u307e\u3067\u306f\u5909\u5316\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<strong>\u8efd\u3044\u578b\u3068\u306e\u533a\u5225\u3084\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3059\u308b\u305f\u3081\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\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>\u75c7\u72b6\u3054\u3068\u306b\u5c02\u9580\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3057\u3066\u6cbb\u7642\u3068\u7d4c\u904e\u89b3\u5bdf\u3092\u884c\u3044\u307e\u3059\u3002<strong>\u7279\u306b\u751f\u307e\u308c\u3066\u3059\u3050\u306e\u6642\u671f\u306f\u3001\u5fc3\u81d3\u3068\u547c\u5438\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3067\u304d\u308b\u65bd\u8a2d\u3067\u306e\u51fa\u7523\u30fb\u7ba1\u7406\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3\u75c5\u306e\u6cbb\u7642<\/strong>\uff1a\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u8a55\u4fa1\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3084\u624b\u8853\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u547c\u5438\u306e\u7ba1\u7406<\/strong>\uff1a\u80f8\u90ed\u304c\u72ed\u304f\u547c\u5438\u304c\u82e6\u3057\u3044\u65b0\u751f\u5150\u306b\u306f\u3001\u9178\u7d20\u6295\u4e0e\u3084\u4eba\u5de5\u547c\u5438\u306a\u3069\u306e\u88dc\u52a9\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u591a\u6307\u75c7\u306e\u624b\u8853<\/strong>\uff1a\u624b\u306e\u4f7f\u3044\u3084\u3059\u3055\u3084\u898b\u305f\u76ee\u3092\u8003\u3048\u3066\u3001\u4e73\u5e7c\u5150\u671f\u306b\u884c\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u3067\u306e\u7d99\u7d9a\u7684\u306a\u7ba1\u7406<\/strong>\uff1a\u51fa\u751f\u6b6f\u304c\u6388\u4e73\u306e\u59a8\u3052\u306b\u306a\u308b\u3068\u304d\u306e\u5bfe\u5fdc\u3001\u6b6f\u306e\u6570\u304c\u5c11\u306a\u3044\u5834\u5408\u306e\u5165\u308c\u6b6f\u3084\u77ef\u6b63\u6cbb\u7642\u306a\u3069<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u3067\u306e\u7d4c\u904e\u89b3\u5bdf<\/strong>\uff1aX\u811a\u3084\u95a2\u7bc0\u306e\u72b6\u614b\u3092\u898b\u5b88\u308a\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6210\u9577\u306e\u898b\u5b88\u308a\u3068\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u542b\u3081\u3001\u7d99\u7d9a\u7684\u306a\u652f\u3048\u304c\u5fc5\u8981\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>EVC2, EVC<\/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>EVC2, EVC<\/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\">\u30a8\u30ea\u30b9\u30fb\u30f4\u30a1\u30f3\u30fb\u30af\u30ec\u30d5\u30a7\u30eb\u30c9\u75c7\u5019\u7fa4\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306e\u305f\u3081\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>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\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>EVC<\/strong> \u3068 <strong>EVC2<\/strong> \u306f 4p16 \u4e0a\u3067\u4e92\u3044\u306e5\u2032\u5074\u3092\u5411\u304d\u5408\u308f\u305b\u305f\u914d\u7f6e\uff08\u982d\u90e8\u5bfe\u982d\u90e8\u914d\u7f6e\uff09\u3092\u3068\u308b\u3001\u76f8\u540c\u6027\u306e\u306a\u30442\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3002\u4e21\u8005\u306e\u7523\u7269\u306f<strong>\u4e00\u6b21\u7e4a\u6bdb\u57fa\u90e8\u306e\u9650\u5c40\u3057\u305f\u9818\u57df\u3067\u8907\u5408\u4f53\u3092\u5f62\u6210<\/strong>\u3057\u3001Smoothened \u306e\u4e0b\u6d41\u3067 GLI \u8ee2\u5199\u56e0\u5b50\u306e\u6d3b\u6027\u5316\u3092\u62c5\u3046\u3002\u6b20\u640d\u3059\u308b\u3068\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\u30b7\u30b0\u30ca\u30eb\u3001\u3068\u308a\u308f\u3051<strong>\u6210\u9577\u677f\u306b\u304a\u3051\u308b Indian hedgehog \u3078\u306e\u5fdc\u7b54\u304c\u4f4e\u4e0b<\/strong>\u3057\u3001\u8edf\u9aa8\u7d30\u80de\u306e\u5897\u6b96\u30fb\u5206\u5316\u304c\u969c\u5bb3\u3055\u308c\u308b\u3002\u672c\u75c7\u306f<strong>\u7e4a\u6bdb\u75c5\uff08\u30b7\u30ea\u30aa\u30d1\u30c1\u30fc\uff09\u306e\u4e00\u3064<\/strong>\u3068\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3001\u9aa8\u7cfb\u7d71\u75be\u60a3\u306e\u56fd\u969b\u5206\u985e\u3067\u306f\u77ed\u808b\u9aa8\u80f8\u90ed\u7570\u5f62\u6210\u75c7\uff08\u591a\u6307\u75c7\u306e\u6709\u7121\u3092\u554f\u308f\u306a\u3044\uff09\u7fa4\u306b\u542b\u307e\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u672c\u907a\u4f1d\u5b50\u5ea7\u3067\u306f\u907a\u4f1d\u5f62\u5f0f\u306e\u7570\u306a\u308b2\u75be\u60a3\u304c\u751f\u3058\u308b<\/strong>\u2014\u2014<strong>\u2460\u4e21\u30a2\u30ec\u30eb\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u306b\u3088\u308b\u30a8\u30ea\u30b9\u30fb\u30f4\u30a1\u30f3\u30fb\u30af\u30ec\u30d5\u30a7\u30eb\u30c9\u75c7\u5019\u7fa4\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u3001OMIM #225500\uff09\u3068\u3001\u2461\u4e3b\u306b C \u672b\u7aef\u5074\u306e\u77ed\u7e2e\u578b\u5909\u7570\u304c\u30d8\u30c6\u30ed\u63a5\u5408\u3067\u512a\u6027\u963b\u5bb3\u7684\u306b\u306f\u305f\u3089\u304f\u30ef\u30a4\u30e4\u30fc\u30ba\u5148\u7aef\u9854\u9762\u7570\u9aa8\u75c7\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u3001OMIM #193530\uff09<\/strong>\u3067\u3042\u308b\u3002\u5f8c\u8005\u306f\u8efd\u5ea6\u306e\u4f4e\u8eab\u9577\u30fb\u8ef8\u5f8c\u6027\u591a\u6307\u30fb\u722a\u3068\u6b6f\u306e\u7570\u5e38\u306b\u3068\u3069\u307e\u308a\u3001\u5fc3\u75be\u60a3\u3084\u80f8\u90ed\u4f4e\u5f62\u6210\u306f\u901a\u5e38\u4f34\u308f\u306a\u3044\u3002<strong>\u30a8\u30ea\u30b9\u30fb\u30f4\u30a1\u30f3\u30fb\u30af\u30ec\u30d5\u30a7\u30eb\u30c9\u75c7\u5019\u7fa4\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u4fdd\u56e0\u8005\u306f\u901a\u5e38\u7121\u75c7\u72b6\u3067\u3042\u308b\u3002<\/strong>\u30aa\u30fc\u30eb\u30c9\u30fb\u30aa\u30fc\u30c0\u30fc\u30fb\u30a2\u30fc\u30df\u30c3\u30b7\u30e5\u3067\u306f EVC \u306e\u5275\u59cb\u8005\u5909\u7570\u306b\u3088\u308a\u9ad8\u983b\u5ea6\u306b\u8a8d\u3081\u3089\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u7a92\u606f\u6027\u80f8\u90ed\u7570\u5f62\u6210\u75c7\uff08\u30b8\u30e5\u30f3\u30cc\u75c7\u5019\u7fa4\u3001<em>DYNC2H1<\/em> \u306a\u3069\uff09\u3001\u77ed\u808b\u9aa8\u591a\u6307\u75c7\u5019\u7fa4\uff08\u5468\u7523\u671f\u81f4\u6b7b\u578b\uff09\u3001\u53e3\u9854\u6307\u75c7\u5019\u7fa4\u306a\u3069\u306e\u4ed6\u306e\u7e4a\u6bdb\u75c5\u304c\u6319\u304c\u308b\u3002<strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u5171\u901a\u5fc3\u623f\u30fb\u623f\u5ba4\u4e2d\u9694\u6b20\u640d\uff09\u3068\u5916\u80da\u8449\u75c7\u72b6\uff08\u722a\u30fb\u6b6f\u30fb\u53e3\u8154\u5c0f\u5e2f\u306e\u7570\u5e38\uff09\u306e\u5408\u4f75\u306f\u672c\u75c7\u3092\u5f37\u304f\u793a\u5506\u3059\u308b\u3002<\/strong>\u307e\u305f\u3001<strong>\u30ef\u30a4\u30e4\u30fc\u30ba\u5148\u7aef\u9854\u9762\u7570\u9aa8\u75c7\u3068\u306e\u533a\u5225\u306f\u6b21\u5b50\u518d\u767a\u7387\u304c25%\uff08\u6f5c\u6027\uff09\u306850%\uff08\u9855\u6027\uff09\u3067\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>\u4e00\u65b9\u3001\u540c\u3058\u907a\u4f1d\u5b50\u306b\u3088\u308b\u8efd\u3044\u75c5\u6c17\uff08\u30ef\u30a4\u30e4\u30fc\u30ba\u5148\u7aef\u9854\u9762\u7570\u9aa8\u75c7\uff09\u306f\u9855\u6027\u907a\u4f1d\u3067\u3001\u78ba\u7387\u306f2\u5206\u306e1\u3067\u3059\u3002<strong>\u518d\u767a\u7387\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u5909\u5316\u306e\u7a2e\u985e\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>\u598a\u5a20\u4e2d\u671f\u4ee5\u964d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u3001\u624b\u8db3\u306e\u9aa8\u306e\u77ed\u7e2e\u3001\u591a\u6307\u75c7\u3001\u72ed\u3044\u80f8\u90ed\u3001\u5fc3\u81d3\u306e\u7570\u5e38\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u6240\u898b\u304c\u306f\u3063\u304d\u308a\u305b\u305a\u51fa\u751f\u5f8c\u306b\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u598a\u5a20\u65e9\u671f\u304b\u3089\u306e\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. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u5225\u306e\u75c5\u6c17\u3082\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>EVC2\u30fbEVC \u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u30ef\u30a4\u30e4\u30fc\u30ba\u5148\u7aef\u9854\u9762\u7570\u9aa8\u75c7\u3068\u3044\u3046\u8efd\u3044\u75c5\u6c17\u3082\u8d77\u3053\u3057\u307e\u3059\u3002<\/strong>\u3053\u3061\u3089\u306f1\u3064\u306e\u5909\u5316\u3060\u3051\u3067\u767a\u75c7\u3057\u3001\u591a\u6307\u75c7\u3084\u722a\u30fb\u6b6f\u306e\u7570\u5e38\u3001\u8efd\u3044\u4f4e\u8eab\u9577\u304c\u307f\u3089\u308c\u307e\u3059\u304c\u3001\u5fc3\u81d3\u75c5\u3084\u72ed\u3044\u80f8\u90ed\u306f\u901a\u5e38\u4f34\u3044\u307e\u305b\u3093\u3002\u30a8\u30ea\u30b9\u30fb\u30f4\u30a1\u30f3\u30fb\u30af\u30ec\u30d5\u30a7\u30eb\u30c9\u75c7\u5019\u7fa4\u306f\u3001\u7236\u65b9\u30fb\u6bcd\u65b9\u306e\u4e21\u65b9\u306b\u5909\u5316\u304c\u305d\u308d\u3046\u3001\u3088\u308a\u91cd\u3044\u578b\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u6210\u9577\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u4e73\u5150\u671f\u306b\u306f\u5fc3\u81d3\u75c5\u3084\u547c\u5438\u306e\u554f\u984c\u3067\u547d\u306b\u304b\u304b\u308f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u306e\u6642\u671f\u3092\u4e57\u308a\u8d8a\u3048\u308b\u3068\u3001\u591a\u304f\u306e\u65b9\u306f\u6210\u4eba\u3092\u8fce\u3048\u307e\u3059\u3002<\/strong>\u77e5\u7684\u767a\u9054\u306f\u901a\u5e38\u6b63\u5e38\u3067\u3001\u4f4e\u8eab\u9577\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u5b66\u6821\u751f\u6d3b\u3084\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u65b9\u3082\u591a\u304f\u3044\u307e\u3059\u3002\u5fc3\u81d3\u30fb\u6b6f\u30fb\u95a2\u7bc0\u306b\u3064\u3044\u3066\u3001\u9577\u304f\u5c02\u9580\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\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>Baujat G, Le Merrer M. Ellis-van Creveld syndrome. <em>Orphanet J Rare Dis<\/em>. 2007;2:27.<\/li>\n\n\n\n<li>Ruiz-Perez VL, Ide SE, Strom TM, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. <em>Nat Genet<\/em>. 2000;24(3):283-286.<\/li>\n\n\n\n<li>Ruiz-Perez VL, Tompson SW, Blair HJ, et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. <em>Am J Hum Genet<\/em>. 2003;72(3):728-732.<\/li>\n\n\n\n<li>Ruiz-Perez VL, Goodship JA. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. <em>Am J Med Genet C Semin Med Genet<\/em>. 2009;151C(4):341-351.<\/li>\n\n\n\n<li>OMIM #225500 Ellis-van Creveld syndrome; EVC. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147363","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\/147363","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\/147363\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147363"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}