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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\u306b\u5408\u308f\u305b\u3066\u3001<strong>\u5c0f\u5150\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u30fb\u5f62\u6210\u5916\u79d1\u30fb\u547c\u5438\u5668\u3084\u9ebb\u9154\u306e\u5c02\u9580\u533b\u306a\u3069\u304c\u9023\u643a\u3057\u3001\u6210\u9577\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u652f\u63f4\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u306e\u7ba1\u7406<\/strong>\uff1a\u4e73\u5150\u671f\u306e\u547c\u5438\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u9178\u7d20\u6295\u4e0e\u3084\u547c\u5438\u306e\u88dc\u52a9\u3092\u884c\u3044\u307e\u3059\u3002\u9ebb\u9154\u3092\u304b\u3051\u308b\u969b\u306f\u3001\u6c17\u9053\u306e\u78ba\u4fdd\u306b\u3068\u304f\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0\u306e\u8131\u81fc\u30fb\u5185\u53cd\u8db3\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u88c5\u5177\u3084\u30ae\u30d7\u30b9\u3092\u7528\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u80cc\u9aa8\u306e\u5b9a\u671f\u7684\u306a\u78ba\u8a8d<\/strong>\uff1a\u5074\u5f2f\u30fb\u5f8c\u5f2f\u306e\u9032\u307f\u65b9\u3092\u307f\u3066\u3001\u88c5\u5177\u3084\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u88c2\u306e\u6cbb\u7642<\/strong>\uff1a\u5f62\u6210\u5916\u79d1\u3067\u306e\u624b\u8853\u3068\u3001\u54fa\u4e73\u30fb\u3053\u3068\u3070\u306e\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u751f\u6d3b\u306e\u652f\u63f4<\/strong>\uff1a\u904b\u52d5\u6a5f\u80fd\u3092\u4fdd\u3061\u3001\u4f4e\u8eab\u9577\u306b\u5408\u308f\u305b\u305f\u65e5\u5e38\u751f\u6d3b\u306e\u5de5\u592b\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4<\/strong><\/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>CANT1<\/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>CANT1<\/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>CANT1<\/strong>\uff08\u30ab\u30eb\u30b7\u30a6\u30e0\u6d3b\u6027\u5316\u30cc\u30af\u30ec\u30aa\u30c1\u30c0\u30fc\u30bc1\uff09\u306f<strong>\u5c0f\u80de\u4f53\u30fb\u30b4\u30eb\u30b8\u4f53\u306b\u5c40\u5728\u3057\u3001UDP \u3092 UMP \u3078\u52a0\u6c34\u5206\u89e3\u3059\u308b\u9175\u7d20<\/strong>\u3067\u3042\u308b\u3002\u7cd6\u8ee2\u79fb\u53cd\u5fdc\u3067\u751f\u3058\u308b UDP \u3092\u9664\u53bb\u3057\u3001\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u7cd6\u306e\u4f9b\u7d66\u3092\u5186\u6ed1\u306b\u3059\u308b\u3053\u3068\u3067\u3001<strong>\u30b0\u30ea\u30b3\u30b5\u30df\u30ce\u30b0\u30ea\u30ab\u30f3\u9396\u306e\u5408\u6210\u3092\u652f\u3048\u308b<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002\u60a3\u8005\u7dda\u7dad\u82bd\u7d30\u80de\u3067\u306f\u30d7\u30ed\u30c6\u30aa\u30b0\u30ea\u30ab\u30f3\u5408\u6210\u306e\u4f4e\u4e0b\u304c\u793a\u3055\u308c\u3066\u304a\u308a\u3001\u8edf\u9aa8\u57fa\u8cea\u3084\u9771\u5e2f\u306e\u7570\u5e38\u304c\u4f4e\u8eab\u9577\u3068\u95a2\u7bc0\u5f1b\u7de9\u306e\u80cc\u666f\u306b\u3042\u308b\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u672c\u75c7\u306f\u5f93\u6765\u3001\u81e8\u5e8a\u50cf\u304b\u3089<strong>\u624b\u306e\u6240\u898b\uff08\u7b2c2\u4e2d\u624b\u9aa8\u9060\u4f4d\u306e\u526f\u9aa8\u5316\u4e2d\u5fc3\u3001\u6bcd\u6307\u672b\u7bc0\u9aa8\u306e\u4e8c\u5206\u3001\u6307\u7bc0\u9aa8\u306e\u5909\u5f62\uff09\u3092\u4f34\u3046\u578b\u3001\u4f34\u308f\u306a\u3044\u578b\u3001\u4e2d\u624b\u9aa8\u77ed\u7e2e\u3068\u6307\u7bc0\u9aa8\u5ef6\u9577\u3092\u4f34\u3046\u30ad\u30e0\u4e9c\u578b<\/strong>\u306b\u5206\u3051\u3089\u308c\u3066\u304d\u305f\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\u5f8c\u3001<strong>CANT1 \u5909\u7570\u306f\u3053\u308c\u3089\u3044\u305a\u308c\u306e\u81e8\u5e8a\u578b\u3067\u3082\u5831\u544a\u3055\u308c\u3001\u4e00\u65b9\u3067 XYLT1 \u5909\u7570\u306f\u624b\u306e\u6240\u898b\u3092\u6b20\u304f\u578b\u3092\u8d77\u3053\u3059<\/strong>\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u308a\u3001\u73fe\u5728\u306f\u907a\u4f1d\u5b50\u306b\u57fa\u3065\u3044\u30661\u578b\uff08CANT1\uff09\u30012\u578b\uff08XYLT1\uff09\u3068\u547c\u3070\u308c\u308b\u3002<strong>\u5927\u817f\u9aa8\u8fd1\u4f4d\u306e\u300c\u30e2\u30f3\u30ad\u30fc\u30ec\u30f3\u30c1\u300d\u69d8\u5909\u5f62\u3068\u624b\u6839\u9aa8\u306e\u9aa8\u5e74\u9f62\u4fc3\u9032<\/strong>\u306f\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u3002CANT1 \u306e\u3088\u308a\u8efd\u75c7\u306e\u30a2\u30ec\u30eb\u306f\u591a\u767a\u6027\u9aa8\u7aef\u7570\u5f62\u6210\u75c77\u578b\u3068\u3057\u3066\u3001\u4f4e\u8eab\u9577\u304c\u8efd\u304f\u95a2\u7bc0\u75c7\u72b6\u304c\u4e2d\u5fc3\u306e\u8868\u73fe\u578b\u3092\u3068\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30e9\u30fc\u30bb\u30f3\u75c7\u5019\u7fa4\uff08<em>FLNB<\/em>\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\u3067\u65b0\u751f\u7a81\u7136\u5909\u7570\u304c\u591a\u3044\uff09\u3001\u95a2\u7bc0\u5f1b\u7de9\u3092\u4f34\u3046\u810a\u690e\u9aa8\u7aef\u9aa8\u5e79\u7aef\u7570\u5f62\u6210\u75c7\uff08<em>B3GALT6<\/em>\uff09\u3001\u5927\u95a2\u7bc0\u8131\u81fc\u3092\u4f34\u3046\u810a\u690e\u9aa8\u7aef\u7570\u5f62\u6210\u75c7\uff08<em>CHST3<\/em>\uff09\u3001\u30c0\u30a4\u30a2\u30b9\u30c8\u30ed\u30d5\u30a3\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\uff08<em>SLC26A2<\/em>\uff09\u306a\u3069\u304c\u6319\u304c\u308b\u3002<strong>\u907a\u4f1d\u5f62\u5f0f\u306b\u3088\u308a\u6b21\u5b50\u518d\u767a\u7387\u304c25%\uff08\u6f5c\u6027\uff09\u3068\u3054\u304f\u308f\u305a\u304b\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\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>\u4f3c\u305f\u75c7\u72b6\u306e\u9aa8\u7cfb\u7d71\u75be\u60a3\u306b\u306f\u3001\u5076\u767a\u7684\u306b\u8d77\u3053\u308b\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\uff09\u3082\u306e\u3082\u3042\u308a\u3001\u305d\u306e\u5834\u5408\u306e\u518d\u767a\u7387\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3059\u3002<strong>\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>\u598a\u5a20\u4e2d\u671f\u4ee5\u964d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u3001\u624b\u8db3\u306e\u77ed\u3055\u306a\u3069\u304b\u3089\u9aa8\u7cfb\u7d71\u75be\u60a3\u304c\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u8d85\u97f3\u6ce2\u3060\u3051\u3067\u75c5\u540d\u307e\u3067\u78ba\u5b9a\u3059\u308b\u306e\u306f\u96e3\u3057\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u78ba\u5b9a\u3057\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. 2\u578b\u3084\u3001\u540c\u3058\u907a\u4f1d\u5b50\u306e\u8efd\u3044\u75c5\u6c17\u3068\u306f\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>2\u578b\u306f XYLT1 \u3068\u3044\u3046\u5225\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001\u624b\u306e\u9aa8\u306e\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u307f\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u578b\u3067\u3059\u3002<\/strong>\u75c7\u72b6\u306f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u691c\u67fb\u3067\u8abf\u3079\u308b\u907a\u4f1d\u5b50\u3082\u7570\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001<strong>\u540c\u3058 CANT1 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3082\u3001\u306f\u305f\u3089\u304d\u304c\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u591a\u767a\u6027\u9aa8\u7aef\u7570\u5f62\u6210\u75c77\u578b\u3068\u306a\u308a\u3001\u4f4e\u8eab\u9577\u306f\u8efd\u304f\u3001\u6210\u9577\u671f\u4ee5\u964d\u306e\u95a2\u7bc0\u306e\u75db\u307f\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u751f\u307e\u308c\u305f\u3042\u3068\u3001\u3069\u306e\u3088\u3046\u306a\u7d4c\u904e\u3092\u305f\u3069\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u4e73\u5150\u671f\u306f\u547c\u5438\u306e\u554f\u984c\u304c\u3082\u3063\u3068\u3082\u6ce8\u610f\u306e\u5fc5\u8981\u306a\u6642\u671f\u3067\u3001\u91cd\u3044\u5834\u5408\u306b\u306f\u547d\u306b\u95a2\u308f\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/strong>\u3053\u306e\u6642\u671f\u3092\u8d8a\u3048\u308b\u3068\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u307e\u306f\u6210\u9577\u3057\u3001\u5b66\u6821\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u4f4e\u8eab\u9577\u3084\u95a2\u7bc0\u306e\u8131\u81fc\u3001\u80cc\u9aa8\u306e\u66f2\u304c\u308a\u306b\u5bfe\u3057\u3066\u3001<strong>\u6210\u9577\u306b\u5408\u308f\u305b\u305f\u7d99\u7d9a\u7684\u306a\u8a3a\u5bdf\u3068\u6cbb\u7642\u304c\u5fc5\u8981\u3067\u3059<\/strong>\u3002\u7d4c\u904e\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u305f\u3081\u3001\u4e3b\u6cbb\u533b\u3068\u3088\u304f\u8a71\u3057\u5408\u3063\u3066\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>Huber C, Oul\u00e8s B, Bertoli M, et al. Identification of CANT1 mutations in Desbuquois dysplasia. <em>Am J Hum Genet<\/em>. 2009;85(5):706-710.<\/li>\n\n\n\n<li>Furuichi T, Dai J, Cho TJ, et al. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. <em>J Med Genet<\/em>. 2011;48(1):32-37.<\/li>\n\n\n\n<li>Nizon M, Huber C, De Leonardis F, et al. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. <em>Hum Mutat<\/em>. 2012;33(8):1261-1266.<\/li>\n\n\n\n<li>Mortier GR, Cohn DH, Cormier-Daire V, et al. Nosology and classification of genetic skeletal disorders: 2019 revision. <em>Am J Med Genet A<\/em>. 2019;179(12):2393-2419.<\/li>\n\n\n\n<li>OMIM #251450 Desbuquois dysplasia 1; DBQD1. 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-147909","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\/147909","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\/147909\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147909"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}