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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<strong>\u4f3c\u305f\u75c7\u72b6\u306e\u75c5\u6c17\u306f\u591a\u304f\u3001\u578b\u306b\u3088\u3063\u3066\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u7570\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3059\u308b\u3046\u3048\u3067\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\u907a\u4f1d\u5b50\u306e\u5909\u5316\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\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3068\u3001\u6210\u9577\u30fb\u767a\u9054\u306e\u652f\u63f4\u3092\u3001<strong>\u5f62\u6210\u5916\u79d1\u30fb\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\u30fb\u6ccc\u5c3f\u5668\u79d1\u30fb\u5c0f\u5150\u79d1\u306a\u3069\u304c\u9023\u643a\u3057\u3066\u884c\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53e3\u5507\u88c2\u30fb\u53e3\u84cb\u88c2\u306e\u6cbb\u7642<\/strong>\uff1a\u6210\u9577\u306b\u5408\u308f\u305b\u305f\u624b\u8853\u3001\u54fa\u4e73\u306e\u5de5\u592b\u3001\u3053\u3068\u3070\u306e\u8a13\u7df4\u3001\u6b6f\u79d1\u77ef\u6b63<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u4e0b\u5782\u306e\u6cbb\u7642<\/strong>\uff1a\u8996\u529b\u306e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u5834\u5408\u306f\u3001\u307e\u3076\u305f\u3092\u4e0a\u3052\u308b\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u306e\u6cbb\u7642<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u3001\u982d\u306e\u5f62\u3092\u6574\u3048\u8133\u306e\u6210\u9577\u306e\u5834\u6240\u3092\u78ba\u4fdd\u3059\u308b\u624b\u8853\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u30fb\u6ccc\u5c3f\u5668\u306e\u7ba1\u7406<\/strong>\uff1a\u8180\u80f1\u5c3f\u7ba1\u9006\u6d41\u306a\u3069\u306b\u5bfe\u3059\u308b\u7d4c\u904e\u89b3\u5bdf\u30fb\u6cbb\u7642\u3001\u505c\u7559\u7cbe\u5de3\u306e\u624b\u8853<\/li>\n\n\n\n<li><strong>\u8074\u529b\u306e\u78ba\u8a8d\u3068\u88dc\u8074<\/strong>\u3001\u76ee\u306e\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u652f\u63f4<\/strong>\uff1a\u7642\u80b2\u3001\u5b66\u7fd2\u9762\u306e\u652f\u63f4\u3001\u3054\u5bb6\u65cf\u3078\u306e\u7d99\u7d9a\u7684\u306a\u652f\u3048<\/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>COLEC11<\/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>COLEC11<\/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>\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>COLEC11<\/strong> \u306f\u30b3\u30ec\u30af\u30c1\u30f3\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b\u53ef\u6eb6\u6027\u30d1\u30bf\u30fc\u30f3\u8a8d\u8b58\u5206\u5b50 <strong>CL-K1<\/strong> \u3092\u30b3\u30fc\u30c9\u3057\u3001MASP \u7fa4\u3068\u8907\u5408\u4f53\u3092\u5f62\u6210\u3057\u3066\u30ec\u30af\u30c1\u30f3\u7d4c\u8def\u306e\u88dc\u4f53\u6d3b\u6027\u5316\u306b\u95a2\u4e0e\u3059\u308b\u30022011\u5e74\u3001Rooryck \u3089\u306f3MC\u75c7\u5019\u7fa4\u306e\u5bb6\u7cfb\u3067 <strong>COLEC11 \u3068 MASP1 \u306e\u4e21\u30a2\u30ec\u30eb\u6027\u5909\u7570<\/strong>\u3092\u540c\u5b9a\u3057\u3001<strong>CL-K1 \u304c\u80ce\u751f\u671f\u306e\u982d\u90e8\u795e\u7d4c\u5824\u7d30\u80de\u306e\u904a\u8d70\u306b\u5bfe\u3059\u308b\u8a98\u5f15\u30b7\u30b0\u30ca\u30eb\u3068\u3057\u3066\u306f\u305f\u3089\u304f<\/strong>\u3053\u3068\u3092\u30bc\u30d6\u30e9\u30d5\u30a3\u30c3\u30b7\u30e5\u30e2\u30c7\u30eb\u3067\u793a\u3057\u305f\u3002\u3053\u308c\u306b\u3088\u308a\u3001<strong>\u81ea\u7136\u514d\u75ab\u5206\u5b50\u304c\u9854\u9762\u5f62\u614b\u5f62\u6210\u306b\u95a2\u4e0e\u3059\u308b\u3068\u3044\u3046\u65b0\u305f\u306a\u6982\u5ff5<\/strong>\u304c\u63d0\u5531\u3055\u308c\u305f\u3002\u5831\u544a\u3055\u308c\u305f\u5909\u7570\u306e\u591a\u304f\u306f CL-K1 \u306e\u7cd6\u8a8d\u8b58\u30c9\u30e1\u30a4\u30f3\u306b\u96c6\u4e2d\u3057\u3001\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3067\u306f\u5206\u6ccc\u969c\u5bb3\u304c\u793a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>3MC\u75c7\u5019\u7fa4\u306f\u540c\u4e00\u7d4c\u8def\u4e0a\u306e3\u907a\u4f1d\u5b50\u306b\u3088\u308b\u907a\u4f1d\u7684\u7570\u8cea\u6027\u3092\u793a\u3059<\/strong>\u2014\u2014<strong>\u24601\u578b\uff08MASP1\u3001\u4e3b\u306b MASP-3 \u30a2\u30a4\u30bd\u30d5\u30a9\u30fc\u30e0\u306e\u6a5f\u80fd\u55aa\u5931\uff09\u3001\u24612\u578b\uff08COLEC11\uff09\u3001\u24623\u578b\uff08COLEC10\u3001CL-L1 \u3092\u30b3\u30fc\u30c9\u3057\u3001CL-K1 \u3068\u30d8\u30c6\u30ed\u8907\u5408\u4f53 CL-LK \u3092\u5f62\u6210\uff09<\/strong>\u3002\u3044\u305a\u308c\u3082 CL-LK\uff0fMASP-3 \u8907\u5408\u4f53\u306e\u6a5f\u80fd\u4f4e\u4e0b\u306b\u53ce\u675f\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3001<strong>\u578b\u9593\u3067\u81e8\u5e8a\u50cf\u306b\u660e\u78ba\u306a\u5dee\u306f\u78ba\u7acb\u3057\u3066\u304a\u3089\u305a\u3001\u773c\u9593\u958b\u96e2\u30fb\u773c\u77bc\u88c2\u72ed\u5c0f\u30fb\u773c\u77bc\u4e0b\u5782\u30fb\u9ad8\u3044\u5f13\u72b6\u7709\u304c\u6700\u3082\u4e00\u8cab\u3057\u305f\u6240\u898b<\/strong>\u3067\u3042\u308b\u3002Michels\u30fbMalpuech\u30fbCarnevale\u30fbOSA\u75c7\u5019\u7fa4\u3068\u3057\u3066\u500b\u5225\u306b\u8a18\u8f09\u3055\u308c\u3066\u304d\u305f\u75c5\u614b\u306f\u3001\u540c\u4e00\u75be\u60a3\u306e\u8868\u73fe\u578b\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3068\u3057\u3066\u7d71\u5408\u3055\u308c\u305f\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u773c\u77bc\u88c2\u72ed\u5c0f\u30fb\u773c\u77bc\u4e0b\u5782\u30fb\u9006\u5185\u773c\u89d2\u8d05\u76ae\u75c7\u5019\u7fa4\uff08<em>FOXL2<\/em>\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff09\u3001Kabuki\u75c7\u5019\u7fa4\uff08<em>KMT2D<\/em>\uff0f<em>KDM6A<\/em>\uff09\u3001Baraitser-Winter\u75c7\u5019\u7fa4\uff08<em>ACTB<\/em>\uff0f<em>ACTG1<\/em>\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u304c\u591a\u3044\uff09\u3001Opitz G\/BBB\u75c7\u5019\u7fa4\u3001Teebi\u578b\u773c\u9593\u958b\u96e2\u306a\u3069\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u3001\u6b21\u5b50\u518d\u767a\u7387\u304c25%\uff08\u6f5c\u6027\uff09\u300150%\uff08\u9855\u6027\u3067\u89aa\u304c\u7f79\u60a3\uff09\u3001\u307b\u307c0%\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3068\u5927\u304d\u304f\u9055\u3046\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>\u767a\u75c7\u3057\u306a\u3044\u304a\u5b50\u3055\u307e\u306e\u3046\u3061\u3001\u591a\u304f\u306f\u3054\u4e21\u89aa\u3068\u540c\u3058\u304f\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u307e\u3059\u3002<strong>\u4f3c\u305f\u75c7\u72b6\u3067\u3082\u907a\u4f1d\u5f62\u5f0f\u306e\u7570\u306a\u308b\u75c5\u6c17\u304c\u3042\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>\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u53e3\u5507\u88c2\u3084\u814e\u81d3\u30fb\u8179\u58c1\u306e\u7570\u5e38\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u306e\u75c5\u6c17\u3068\u8a3a\u65ad\u304c\u3064\u304f\u306e\u306f\u591a\u304f\u306e\u5834\u5408\u3001\u751f\u307e\u308c\u305f\u3042\u3068\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\u598a\u5a20\u4e2d\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\u3059\u3002<\/strong>1\u578b\u306f MASP1\u30012\u578b\u306f COLEC11\u30013\u578b\u306f COLEC10 \u306e\u5909\u5316\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u3064\u304f\u308b\u305f\u3093\u3071\u304f\u8cea\u306f\u540c\u3058\u3057\u304f\u307f\u306e\u4e2d\u3067\u5354\u529b\u3057\u3066\u306f\u305f\u3089\u304f\u305f\u3081\u3001<strong>\u75c7\u72b6\u306f\u3088\u304f\u4f3c\u3066\u304a\u308a\u3001\u75c7\u72b6\u3060\u3051\u3067\u578b\u3092\u898b\u5206\u3051\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002<\/strong>\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u691c\u67fb\u306b\u306f\u3001\u3069\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304b\u3092\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u7684\u306a\u767a\u9054\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u767a\u9054\u306e\u9045\u308c\u3084\u5b66\u7fd2\u306e\u56f0\u96e3\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7a0b\u5ea6\u306f\u3055\u307e\u3056\u307e\u3067\u3001\u307b\u3068\u3093\u3069\u5f71\u97ff\u306e\u306a\u3044\u65b9\u3082\u3044\u307e\u3059\u3002<\/strong>\u96e3\u8074\u3084\u8996\u529b\u306e\u554f\u984c\u304c\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u65e9\u3081\u306b\u8074\u529b\u3084\u76ee\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306a\u652f\u63f4\u306b\u3064\u306a\u3052\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>Rooryck C, Diaz-Font A, Osborn DP, et al. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. <em>Nat Genet<\/em>. 2011;43(3):197-203.<\/li>\n\n\n\n<li>Titomanlio L, Bennaceur S, Bremond-Gignac D, et al. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? <em>Am J Med Genet A<\/em>. 2005;137A(3):332-335.<\/li>\n\n\n\n<li>Munye MM, Diaz-Font A, Ocaka L, et al. COLEC10 is mutated in 3MC patients and regulates early craniofacial development. <em>PLoS Genet<\/em>. 2017;13(3):e1006679.<\/li>\n\n\n\n<li>OMIM #265050 3MC syndrome 2; 3MC2. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>OMIM *612502 Collectin subfamily member 11; COLEC11. 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-147545","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\/147545","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\/147545\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147545"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}