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class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p 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\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\u3053\u306e\u75c5\u6c17\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u975e\u5e38\u306b\u591a\u3044\u305f\u3081\u3001\u8907\u6570\u306e\u907a\u4f1d\u5b50\u3092\u307e\u3068\u3081\u3066\u8abf\u3079\u308b\u691c\u67fb\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002<strong>\u578b\u306b\u3088\u3063\u3066\u907a\u4f1d\u306e\u5f62\u5f0f\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3059\u308b\u3046\u3048\u3067\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\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3001\u88c5\u5177\u3001\u624b\u8853\u306a\u3069\u3092\u7d44\u307f\u5408\u308f\u305b\u3001<strong>\u4f53\u306e\u52d5\u304d\u3068\u751f\u6d3b\u306e\u8cea\u3092\u3067\u304d\u308b\u3060\u3051\u4fdd\u3064\u3053\u3068\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u795e\u7d4c\u5185\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u306a\u3069\u304c\u9023\u643a\u3057\u3066\u9577\u304f\u898b\u5b88\u308a\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u7b4b\u529b\u3084\u95a2\u7bc0\u306e\u67d4\u3089\u304b\u3055\u3092\u4fdd\u3064\u305f\u3081\u306e\u904b\u52d5\u7642\u6cd5<\/li>\n\n\n\n<li><strong>\u88c5\u5177<\/strong>\uff1a\u8db3\u9996\u3092\u652f\u3048\u308b\u88c5\u5177\u3067\u3001\u3064\u307e\u305a\u304d\u3092\u6e1b\u3089\u3057\u6b69\u304d\u3084\u3059\u304f\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5074\u5f2f\u75c7\u306e\u7ba1\u7406<\/strong>\uff1a\u5b9a\u671f\u7684\u306aX\u7dda\u691c\u67fb\u3067\u7d4c\u904e\u3092\u307f\u3066\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u4f53\u5e79\u88c5\u5177\u3084\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li>\u8db3\u306e\u5909\u5f62\u306b\u5bfe\u3059\u308b\u6574\u5f62\u5916\u79d1\u7684\u306a\u624b\u8853<\/li>\n\n\n\n<li><strong>\u8074\u529b\u3084\u547c\u5438\u6a5f\u80fd\u306e\u5b9a\u671f\u7684\u306a\u8a55\u4fa1<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88dc\u8074\u5668\u3084\u547c\u5438\u306e\u88dc\u52a9\u3092\u7528\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u306b\u8ca0\u62c5\u3092\u304b\u3051\u308b\u85ac\u3078\u306e\u6ce8\u610f<\/strong>\uff1a\u4e00\u90e8\u306e\u6297\u304c\u3093\u5264\uff08\u30d3\u30f3\u30af\u30ea\u30b9\u30c1\u30f3\u306a\u3069\uff09\u306f\u75c7\u72b6\u3092\u60aa\u5316\u3055\u305b\u308b\u304a\u305d\u308c\u304c\u3042\u308b\u305f\u3081\u3001\u53d7\u8a3a\u306e\u969b\u306f\u75c5\u540d\u3092\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044<\/li>\n\n\n\n<li>\u5712\u3084\u5b66\u6821\u3001\u8077\u5834\u3067\u306e\u751f\u6d3b\u306e\u5de5\u592b\u3068\u652f\u63f4<\/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>SH3TC2<\/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>SH3TC2<\/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\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>SH3TC2<\/strong>\uff08KIAA1985\uff09\u306f SH3 \u30c9\u30e1\u30a4\u30f3\u3068 TPR \u30e2\u30c1\u30fc\u30d5\u3092\u3082\u3064\u305f\u3093\u3071\u304f\u8cea\u3067\u3001\u672b\u68a2\u795e\u7d4c\u3067\u306f<strong>\u30b7\u30e5\u30ef\u30f3\u7d30\u80de\u306b\u767a\u73fe\u3059\u308b<\/strong>\u3002\u4f4e\u5206\u5b50\u91cfGTPase \u3067\u3042\u308b Rab11 \u306e\u30a8\u30d5\u30a7\u30af\u30bf\u30fc\u3068\u3057\u3066<strong>\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u306e\u30ea\u30b5\u30a4\u30af\u30eb\u7d4c\u8def\u3092\u4ecb\u3057\u305f\u819c\u305f\u3093\u3071\u304f\u8cea\u306e\u8f38\u9001<\/strong>\u306b\u304b\u304b\u308f\u308a\u3001\u30df\u30a8\u30ea\u30f3\u5f62\u6210\u3068\u30e9\u30f3\u30f4\u30a3\u30a8\u7d5e\u8f2a\u306e\u69cb\u9020\u7dad\u6301\u306b\u5fc5\u8981\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002\u75c5\u7406\u3067\u306f\u8131\u9ac4\u30fb\u9ac4\u9798\u518d\u751f\u50cf\u306b\u52a0\u3048\u3001<strong>\u30b7\u30e5\u30ef\u30f3\u7d30\u80de\u306e\u7d30\u80de\u8cea\u7a81\u8d77\u306e\u7570\u5e38\u306a\u4f38\u9577<\/strong>\u304c\u7279\u5fb4\u7684\u6240\u898b\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u81e8\u5e8a\u7684\u306b\u306f<strong>10\u6b73\u307e\u3067\u306e\u767a\u75c7\u304c\u591a\u304f\u3001\u5074\u5f2f\u75c7\u304c\u795e\u7d4c\u75c7\u72b6\u306b\u5148\u884c\u307e\u305f\u306f\u307b\u307c\u540c\u6642\u306b\u51fa\u73fe\u3057\u3001\u3057\u3070\u3057\u3070\u91cd\u5ea6\u3067\u624b\u8853\u3092\u8981\u3059\u308b<\/strong>\u3053\u3068\u304c\u3001\u4ed6\u306e\u8131\u9ac4\u578bCMT\u3068\u306e\u91cd\u8981\u306a\u9055\u3044\u3067\u3042\u308b\u3002\u8133\u795e\u7d4c\u969c\u5bb3\uff08\u611f\u97f3\u96e3\u8074\u3001\u9854\u9762\u7b4b\u529b\u4f4e\u4e0b\u3001\u820c\u840e\u7e2e\u306a\u3069\uff09\u3092\u4f34\u3044\u3046\u308b\u4e00\u65b9\u3001<strong>\u9032\u884c\u306f\u7de9\u5f90\u3067\u6b69\u884c\u80fd\u529b\u306e\u4fdd\u305f\u308c\u308b\u4f8b\u304c\u591a\u3044<\/strong>\u3002\u6b27\u5dde\u7cfb\u3067\u983b\u5ea6\u306e\u9ad8\u3044\u5909\u7570\u306f p.Arg954Ter\uff08c.2860C&gt;T\uff09\u3067\u3042\u308a\u3001<strong>\u30ed\u30de\u306e\u96c6\u56e3\u3067\u306f\u5275\u59cb\u8005\u5909\u7570 p.Arg1109Ter\uff08c.3325C&gt;T\uff09\u306b\u3088\u308a\u672c\u75c7\u304c\u6bd4\u8f03\u7684\u591a\u3044<\/strong>\u3002\u307e\u305f\u672c\u907a\u4f1d\u5b50\u306f\u3001<strong>\u5168\u30b2\u30ce\u30e0\u89e3\u6790\u3067\u539f\u56e0\u304c\u521d\u3081\u3066\u540c\u5b9a\u3055\u308c\u305f\u907a\u4f1d\u6027\u75be\u60a3\u306e\u4e00\u3064<\/strong>\u3067\u3042\u308a\u3001\u305d\u306e\u5831\u544a\u3067\u306f p.Arg954Ter \u306e\u30d8\u30c6\u30ed\u63a5\u5408\u4fdd\u56e0\u8005\u306b\u8efd\u75c7\u306e\u6b63\u4e2d\u795e\u7d4c\u5358\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001CMT1A\uff08<em>PMP22<\/em> \u91cd\u8907\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff09\u3001\u4ed6\u306e\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u8131\u9ac4\u578bCMT\uff08<em>GDAP1<\/em>\u3001<em>MTMR2<\/em>\u3001<em>SBF2<\/em>\u3001<em>NDRG1<\/em>\u3001<em>PRX<\/em>\u3001<em>FIG4<\/em> \u306a\u3069\uff09\u3001\u30c7\u30b8\u30a7\u30ea\u30f3\u30fb\u30bd\u30c3\u30bf\u30b9\u75c7\u5019\u7fa4\u3001\u6162\u6027\u708e\u75c7\u6027\u8131\u9ac4\u6027\u591a\u767a\u6839\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\u3001\u7279\u767a\u6027\u5074\u5f2f\u75c7\u304c\u6319\u304c\u308b\u3002<strong>CMT\u306f\u9855\u6027\u30fb\u6f5c\u6027\u30fbX\u9023\u9396\u306e\u5404\u5f62\u5f0f\u3092\u3068\u308a\u3001\u6b21\u5b50\u518d\u767a\u7387\u304c50%\uff08\u9855\u6027\uff09\u306825%\uff08\u6f5c\u6027\uff09\u306a\u3069\u3067\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>\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\u306b\u306f\u9855\u6027\u907a\u4f1d\u306e\u578b\u3082\u591a\u304f\u3001\u305d\u306e\u5834\u5408\u306f\u518d\u767a\u7387\u304c2\u5206\u306e1\u306b\u306a\u308a\u307e\u3059\u3002<strong>\u578b\u306b\u3088\u3063\u3066\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>\u75c7\u72b6\u306f\u751f\u307e\u308c\u305f\u3042\u3068\u3001\u4e3b\u306b\u5c0f\u5150\u671f\u306b\u73fe\u308c\u308b\u305f\u3081\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306f\u901a\u5e38\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u3067\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u306e\u907a\u4f1d\u5b66\u7684\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. \u5c06\u6765\u3001\u6b69\u3051\u306a\u304f\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u9032\u884c\u306f\u6bd4\u8f03\u7684\u3086\u3063\u304f\u308a\u3067\u3001\u591a\u304f\u306e\u65b9\u306f\u88c5\u5177\u306a\u3069\u3092\u4f7f\u3044\u306a\u304c\u3089\u6210\u4eba\u5f8c\u3082\u6b69\u304f\u529b\u3092\u4fdd\u3064\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u5074\u5f2f\u306e\u91cd\u3055\u3084\u75c7\u72b6\u306e\u9032\u307f\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3067\u3001\u65e9\u3081\u306b\u5074\u5f2f\u3084\u8db3\u306e\u5909\u5f62\u306b\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3082\u75c7\u72b6\u306f\u51fa\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u30ad\u30e3\u30ea\u30a2\u306e\u65b9\u306b\u306f\u3001\u901a\u5e38\u3053\u306e\u75c5\u6c17\u306e\u75c7\u72b6\u306f\u51fa\u307e\u305b\u3093\u3002<\/strong>\u305f\u3060\u3057\u3001SH3TC2 \u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u5909\u5316\u3092\u7247\u65b9\u3060\u3051\u3082\u3064\u65b9\u306e\u4e00\u90e8\u3067\u3001\u624b\u9996\u306e\u795e\u7d4c\uff08\u6b63\u4e2d\u795e\u7d4c\uff09\u306e\u8efd\u3044\u969c\u5bb3\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u75c7\u72b6\u304c\u3042\u308b\u3068\u304d\u306f\u4e3b\u6cbb\u533b\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>Senderek J, Bergmann C, Stendel C, et al. Mutations in a gene encoding a novel SH3\/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. <em>Am J Hum Genet<\/em>. 2003;73(5):1106-1119.<\/li>\n\n\n\n<li>Azzedine H, Ravis\u00e9 N, Verny C, et al. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. <em>Neurology<\/em>. 2006;67(4):602-606.<\/li>\n\n\n\n<li>Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. <em>N Engl J Med<\/em>. 2010;362(13):1181-1191.<\/li>\n\n\n\n<li>Bird TD. Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #601596 Charcot-Marie-Tooth disease, type 4C. 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-147818","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\/147818","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\/147818\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147818"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}