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class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u30013M\u75c7\u5019\u7fa42\u578b\u3067\u306f <strong>OBSL1<\/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<strong>\u75c7\u72b6\u306e\u3088\u304f\u4f3c\u305f\u30b7\u30eb\u30d0\u30fc\u30fb\u30e9\u30c3\u30bb\u30eb\u75c7\u5019\u7fa4\u306a\u3069\u3001\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u304c\u7570\u306a\u308b\u75c5\u6c17\u3068\u533a\u5225\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\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u6210\u9577\u3084\u9aa8\u30fb\u95a2\u7bc0\u306e\u72b6\u614b\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u65e5\u5e38\u751f\u6d3b\u30fb\u5b66\u6821\u751f\u6d3b\u3092\u652f\u3048\u308b\u652f\u63f4\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<strong>\u77e5\u7684\u306a\u767a\u9054\u306f\u3075\u3064\u3046\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u304a\u5b50\u3055\u307e\u304c\u81ea\u5206\u3089\u3057\u304f\u66ae\u3089\u305b\u308b\u3088\u3046\u3001\u5468\u56f2\u306e\u7406\u89e3\u3068\u74b0\u5883\u306e\u5de5\u592b\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u306e\u5b9a\u671f\u7684\u306a\u898b\u5b88\u308a<\/strong>\uff1a\u5c0f\u5150\u79d1\u30fb\u5c0f\u5150\u5185\u5206\u6ccc\u79d1\u3067\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u4f38\u3073\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u306e\u691c\u8a0e<\/strong>\uff1a\u8a66\u307f\u3089\u308c\u305f\u5831\u544a\u306f\u3042\u308a\u307e\u3059\u304c\u3001<strong>\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u5341\u5206\u306a\u52b9\u679c\u304c\u5f97\u3089\u308c\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/strong>\u3002\u4e3b\u6cbb\u533b\u3068\u3088\u304f\u76f8\u8ac7\u3057\u3066\u6c7a\u3081\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u3067\u306e\u8a3a\u5bdf<\/strong>\uff1a\u80a1\u95a2\u7bc0\u306e\u5f62\u6210\u4e0d\u5168\u3001\u80cc\u9aa8\u306e\u66f2\u304c\u308a\u3001\u95a2\u7bc0\u306e\u3086\u308b\u3055\u306a\u3069\u3092\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6cbb\u7642\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u601d\u6625\u671f\u306e\u78ba\u8a8d<\/strong>\uff1a\u7537\u6027\u3067\u306f\u7cbe\u5de3\u306e\u306f\u305f\u3089\u304d\u3084\u601d\u6625\u671f\u306e\u9032\u307f\u65b9\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u306a\u652f\u63f4<\/strong>\uff1a\u8eab\u9577\u306e\u4f4e\u3055\u306b\u95a2\u3059\u308b\u60a9\u307f\u3001\u5b66\u6821\u3084\u8077\u5834\u3067\u306e\u751f\u6d3b\u306e\u5de5\u592b\u306b\u3064\u3044\u3066\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>OBSL1<\/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>OBSL1<\/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\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\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>3M\u75c7\u5019\u7fa4<\/strong>\u306f\u3001\u6700\u521d\u306e\u5831\u544a\u80053\u540d\uff08Miller\u3001McKusick\u3001Malvaux\uff09\u306e\u982d\u6587\u5b57\u306b\u7531\u6765\u3059\u308b\u3001<strong>\u5b50\u5bae\u5185\u767a\u80b2\u4e0d\u5168\u306b\u59cb\u307e\u308b\u539f\u767a\u6027\uff08primordial\uff09\u4f4e\u8eab\u9577\u75c7<\/strong>\u3067\u3042\u308b\u3002\u6210\u4eba\u8eab\u9577\u306f\u5e73\u5747\u3092\u5927\u304d\u304f\u4e0b\u56de\u308a\u3001\u76f8\u5bfe\u7684\u5927\u982d\u3001\u9006\u4e09\u89d2\u5f62\u9854\u8c8c\u3001\u8089\u539a\u306e\u9f3b\u5c16\u3001\u77ed\u9838\u3001\u89d2\u5f35\u3063\u305f\u80a9\u3001\u77ed\u3044\u80f8\u90ed\u3001\u8e35\u306e\u7a81\u51fa\u306a\u3069\u3092\u7279\u5fb4\u3068\u3057\u3001<strong>\u77e5\u80fd\u306f\u901a\u5e38\u6b63\u5e38<\/strong>\u3067\u3042\u308b\u3002X\u7dda\u4e0a\u306f<strong>\u7d30\u9577\u3044\u9577\u7ba1\u9aa8\u3068\u9ad8\u3044\u690e\u4f53<\/strong>\u304c\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>OBSL1<\/strong>\uff08obscurin-like 1\uff09\u306f\u7d30\u80de\u9aa8\u683c\u30a2\u30c0\u30d7\u30bf\u30fc\u86cb\u767d\u3092\u30b3\u30fc\u30c9\u3057\u3001<strong>CUL7\uff081\u578b\uff09\u30fbCCDC8\uff083\u578b\uff09\u3068\u8907\u5408\u4f53\u3092\u5f62\u6210\u3059\u308b<\/strong>\u3002OBSL1 \u306f CUL7 \u306e\u5b89\u5b9a\u5316\u306b\u95a2\u4e0e\u3057\u3001CUL7 \u3092\u4e2d\u5fc3\u3068\u3059\u308b\u30e6\u30d3\u30ad\u30c1\u30f3\u30ea\u30ac\u30fc\u30bc\u7cfb\u3092\u4ecb\u3057\u3066\u7d30\u80de\u5897\u6b96\u30fb\u5fae\u5c0f\u7ba1\u52d5\u614b\u3092\u5236\u5fa1\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<strong>2\u578b\u3067\u5831\u544a\u3055\u308c\u308b\u5909\u7570\u306e\u591a\u304f\u306f\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u306a\u3069\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u3067\u3042\u308b<\/strong>\u30023\u578b\u306e\u4e2d\u3067\u306f1\u578b\uff08CUL7\uff09\u304c\u6700\u591a\u3067\u30012\u578b\u304c\u3053\u308c\u306b\u6b21\u3050\u3002<strong>\u81e8\u5e8a\u50cf\u306f3\u578b\u9593\u3067\u5927\u304d\u304f\u91cd\u306a\u308a\u3001\u8868\u73fe\u578b\u306e\u307f\u304b\u3089\u578b\u3092\u5224\u5225\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3042\u308b\u304c\u3001OBSL1 \u4f8b\u3067\u306f CUL7 \u4f8b\u306b\u6bd4\u3079\u8eab\u9577\u306e\u4f4e\u4e0b\u304c\u3084\u3084\u8efd\u5ea6\u3068\u3059\u308b\u5831\u544a\u304c\u3042\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001<strong>\u30b7\u30eb\u30d0\u30fc\u30fb\u30e9\u30c3\u30bb\u30eb\u75c7\u5019\u7fa4<\/strong>\uff08\u76f8\u5bfe\u7684\u5927\u982d\u30fb\u9006\u4e09\u89d2\u5f62\u9854\u8c8c\u304c\u5171\u901a\u3059\u308b\u304c\u3001\u4f53\u306e\u5de6\u53f3\u975e\u5bfe\u79f0\u3084\u54fa\u4e73\u4e0d\u826f\u30fb\u4f4e\u8840\u7cd6\u3092\u4f34\u3044\u3084\u3059\u304f\u3001\u591a\u304f\u306f\u30a4\u30f3\u30d7\u30ea\u30f3\u30c6\u30a3\u30f3\u30b0\u7570\u5e38\u306b\u3088\u308b\u5b64\u767a\u4f8b\uff09\u3001\u30e0\u30ea\u30d6\u30ec\u30a4\u5c0f\u4eba\u75c7\uff08<em>TRIM37<\/em>\uff09\u3001\u5c0f\u982d\u75c7\u6027\u539f\u767a\u6027\u4f4e\u8eab\u9577\u75c7\uff08<em>PCNT<\/em> \u306a\u3069\u3001\u8457\u660e\u306a\u5c0f\u982d\u75c7\u3092\u4f34\u3046\uff09\u3001\u30de\u30a4\u30e4\u30fc\u30fb\u30b4\u30fc\u30ea\u30f3\u75c7\u5019\u7fa4\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u3084\u6b21\u5b50\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>\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>\u3088\u304f\u4f3c\u305f\u75c7\u72b6\u306e\u30b7\u30eb\u30d0\u30fc\u30fb\u30e9\u30c3\u30bb\u30eb\u75c7\u5019\u7fa4\u306f\u3001\u591a\u304f\u304c\u5076\u767a\u7684\u306b\u8d77\u3053\u308a\u518d\u767a\u7387\u304c\u3054\u304f\u4f4e\u3044\u306a\u3069\u3001\u75c5\u6c17\u306b\u3088\u3063\u3066\u898b\u901a\u3057\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<strong>\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>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u80ce\u5150\u306e\u767a\u80b2\u306e\u9045\u308c\u3092\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u306e\u907a\u4f1d\u5b66\u7684\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. 1\u578b\u30fb3\u578b\u3068\u306f\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u9055\u3044\u306f\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3067\u30011\u578b\u306f CUL7\u30012\u578b\u306f OBSL1\u30013\u578b\u306f CCDC8 \u3067\u3059\u3002<\/strong>3\u3064\u306e\u907a\u4f1d\u5b50\u306f\u4f53\u306e\u306a\u304b\u3067\u4e00\u7dd2\u306b\u306f\u305f\u3089\u304f\u305f\u3081\u3001\u75c7\u72b6\u306f\u3068\u3066\u3082\u3088\u304f\u4f3c\u3066\u3044\u307e\u3059\u30022\u578b\u3067\u306f\u8eab\u9577\u306e\u4f4e\u3055\u304c\u3084\u3084\u8efd\u3044\u50be\u5411\u304c\u3042\u308b\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u3069\u306e\u578b\u304b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u304b\u3081\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u80fd\u3084\u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u77e5\u7684\u306a\u767a\u9054\u306f\u3075\u3064\u3046\u3067\u3042\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3001\u5bff\u547d\u3082\u5927\u304d\u304f\u306f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u8eab\u9577\u306e\u4f4e\u3055\u3084\u9aa8\u30fb\u95a2\u7bc0\u306e\u554f\u984c\u306b\u5bfe\u3057\u3066\u3001\u6210\u9577\u306b\u5408\u308f\u305b\u305f\u8a3a\u5bdf\u3068\u751f\u6d3b\u4e0a\u306e\u5de5\u592b\u304c\u5fc5\u8981\u3067\u3059\u3002\u9032\u5b66\u3084\u5c31\u8077\u306a\u3069\u3001\u591a\u304f\u306e\u65b9\u304c\u305d\u308c\u305e\u308c\u306e\u751f\u6d3b\u3092\u9001\u3063\u3066\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>Hanson D, Murray PG, Sud A, et al. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. <em>Am J Hum Genet<\/em>. 2009;84(6):801-806.<\/li>\n\n\n\n<li>Huber C, Delezoide AL, Guimiot F, et al. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. <em>Eur J Hum Genet<\/em>. 2009;17(3):395-400.<\/li>\n\n\n\n<li>Huber C, Dias-Santagata D, Glaser A, et al. Identification of mutations in CUL7 in 3-M syndrome. <em>Nat Genet<\/em>. 2005;37(10):1119-1124.<\/li>\n\n\n\n<li>Hanson D, Murray PG, O&#8217;Sullivan J, et al. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. <em>Am J Hum Genet<\/em>. 2011;89(1):148-153.<\/li>\n\n\n\n<li>OMIM #612921 3-M Syndrome 2; THREEM2. 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-147552","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\/147552","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\/147552\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147552"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}