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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>\u6cbb\u7642\u306f\u3001<strong>\u9aa8\u3084\u95a2\u7bc0\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u6210\u9577\u306b\u5fdc\u3058\u305f\u751f\u6d3b\u306e\u652f\u63f4<\/strong>\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u8eab\u9577\u3092\u4f38\u3070\u3059\u6cbb\u7642\u306e\u52b9\u679c\u306b\u3064\u3044\u3066\u3082\u3001\u5341\u5206\u306a\u6839\u62e0\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6574\u5f62\u5916\u79d1\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf<\/strong>\uff1a\u80cc\u9aa8\u3001\u80a1\u95a2\u7bc0\u3001\u3072\u3056\u3001\u811a\u306e\u5f2f\u66f2\u306e\u5909\u5316\u3092\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88c5\u5177\u3084\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u9996\u306e\u9aa8\u306e\u8a55\u4fa1<\/strong>\uff1a\u9996\u306e\u9aa8\u306e\u4e0d\u5b89\u5b9a\u6027\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3068\u304f\u306b<strong>\u5168\u8eab\u9ebb\u9154\u306e\u524d\u306b\u306f\u3001\u9996\u306e\u72b6\u614b\u3092\u62c5\u5f53\u533b\u306b\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044<\/strong><\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u95a2\u7bc0\u306e\u52d5\u304d\u3084\u7b4b\u529b\u3092\u4fdd\u3061\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u52d5\u4f5c\u3092\u52a9\u3051\u307e\u3059<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u74b0\u5883\u306e\u5de5\u592b<\/strong>\uff1a\u4f4e\u8eab\u9577\u306b\u5408\u308f\u305b\u305f\u5bb6\u5177\u3084\u9053\u5177\u306e\u8abf\u6574\u3001\u5b66\u6821\u3084\u8077\u5834\u3067\u306e\u914d\u616e<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u7684\u306a\u652f\u63f4<\/strong>\uff1a\u3054\u672c\u4eba\u306e\u6210\u9577\u306b\u5fdc\u3058\u305f\u652f\u3048\u3068\u3001\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u8a3a\u65ad\u306e\u610f\u5473\u3084\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u3054\u8aac\u660e\u3057\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>POP1<\/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>POP1<\/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>POP1<\/strong> \u306f\u3001<strong>\u30ea\u30dc\u6838\u30bf\u30f3\u30d1\u30af\u8cea\u8907\u5408\u4f53\u3067\u3042\u308b RNase MRP \u3068 RNase P \u306b\u5171\u901a\u3059\u308b\u6700\u5927\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8<\/strong>\u3067\u3042\u308b\u3002RNase MRP \u306f\u30ea\u30dc\u30bd\u30fc\u30e0 RNA \u524d\u99c6\u4f53\u306e\u30d7\u30ed\u30bb\u30b7\u30f3\u30b0\u3084\u7d30\u80de\u5468\u671f\u95a2\u9023 mRNA \u306e\u5206\u89e3\u306b\u3001RNase P \u306f tRNA \u524d\u99c6\u4f53\u306e 5\u2032 \u672b\u7aef\u30d7\u30ed\u30bb\u30b7\u30f3\u30b0\u306b\u95a2\u4e0e\u3059\u308b\u3002POP1 \u306e\u6a5f\u80fd\u4f4e\u4e0b\u306f\u8907\u5408\u4f53\u306e\u5b89\u5b9a\u6027\u30fb\u6d3b\u6027\u3092\u640d\u306a\u3044\u3001<strong>\u6210\u9577\u677f\u5897\u6b96\u5c64\u306b\u304a\u3051\u308b\u8edf\u9aa8\u7d30\u80de\u306e\u5897\u6b96\u969c\u5bb3<\/strong>\u3092\u4ecb\u3057\u3066\u3001\u80ce\u5150\u671f\u767a\u75c7\u306e\u91cd\u5ea6\u306e\u6210\u9577\u969c\u5bb3\u3092\u3082\u305f\u3089\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u672c\u75be\u60a3\u306f\u3001RNase MRP \u95a2\u9023\u9aa8\u7cfb\u7d71\u75be\u60a3\uff08\u3044\u308f\u3086\u308b RNase MRP \u75c5\uff09\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u308b<\/strong>\u2014\u2014<strong>\u2460RMRP\uff08RNase MRP \u306e RNA \u6210\u5206\uff09\uff1a\u8edf\u9aa8\u6bdb\u9aea\u4f4e\u5f62\u6210\u75c7\u301c\u30a2\u30ca\u30a6\u30af\u30bb\u30c1\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c71\u578b\u3001\u2461POP1\uff08\u30bf\u30f3\u30d1\u30af\u8cea\u6210\u5206\uff09\uff1a\u30a2\u30ca\u30a6\u30af\u30bb\u30c1\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c72\u578b\u3001\u2462NEPRO\uff1a\u30a2\u30ca\u30a6\u30af\u30bb\u30c1\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c73\u578b<\/strong>\u3067\u3042\u308b\u30022\u578b\u306f\u30012011\u5e74\u306b\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306b\u3088\u308a\u3001\u91cd\u5ea6\u306e\u4f4e\u8eab\u9577\u3068\u9aa8\u5e79\u7aef\u30fb\u690e\u4f53\u306e\u7570\u5f62\u6210\u3092\u793a\u3059\u540c\u80de\u4f8b\u3067 POP1 \u306e\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u5909\u7570\u304c\u540c\u5b9a\u3055\u308c\u305f\u3053\u3068\u3067\u78ba\u7acb\u3055\u308c\u305f\u3002<strong>\u305d\u306e\u5f8c\u306e\u5831\u544a\u306f\u5c11\u6570\u306b\u3068\u3069\u307e\u308a\u3001\u6bd4\u8f03\u7684\u8efd\u75c7\u4f8b\u304b\u3089\u80ce\u5150\u671f\u306b\u91cd\u5ea6\u306e\u9aa8\u5909\u5316\u3092\u793a\u3059\u4f8b\u307e\u3067\u8868\u73fe\u578b\u306b\u5e45\u304c\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u907a\u4f1d\u578b\u3068\u8868\u73fe\u578b\u306e\u76f8\u95a2\u306f\u78ba\u7acb\u3057\u3066\u3044\u306a\u3044\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u8edf\u9aa8\u6bdb\u9aea\u4f4e\u5f62\u6210\u75c7\u304a\u3088\u3073\u30a2\u30ca\u30a6\u30af\u30bb\u30c1\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c71\u578b\uff08<em>RMRP<\/em>\uff09\u3001\u540c3\u578b\uff08<em>NEPRO<\/em>\uff09\u3001\u810a\u690e\u9aa8\u5e79\u7aef\u7570\u5f62\u6210\u75c7\u306e\u5404\u578b\u3001\u507d\u6027\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\uff08<em>COMP<\/em>\u3001\u9855\u6027\uff09\u3001\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\uff08<em>FGFR3<\/em>\u3001\u9855\u6027\u30fb\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u8edf\u9aa8\u6bdb\u9aea\u4f4e\u5f62\u6210\u75c7\u3067\u306f\u514d\u75ab\u4e0d\u5168\u3001\u30d2\u30eb\u30b7\u30e5\u30b9\u30d7\u30eb\u30f3\u30b0\u75c5\u3001\u60aa\u6027\u816b\u760d\u3078\u306e\u6ce8\u610f\u304c\u5fc5\u8981\u3068\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540c\u5b9a\u306f\u5408\u4f75\u75c7\u7ba1\u7406\u306e\u65b9\u91dd\u306b\u3082\u76f4\u7d50\u3059\u308b\u3002<\/strong>\u307e\u305f\u3001\u6f5c\u6027\u5f62\u5f0f\uff08\u6b21\u5b50\u518d\u767a\u738725%\uff09\u3068\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u9855\u6027\u5f62\u5f0f\uff08\u518d\u767a\u7387\u306f\u3054\u304f\u4f4e\u3044\uff09\u3067\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5185\u5bb9\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u3002<\/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>\u4f4e\u8eab\u9577\u3092\u8d77\u3053\u3059\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\u591a\u304f\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\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u3001\u624b\u8db3\u306e\u9aa8\u304c\u77ed\u3044\u3053\u3068\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u75c5\u540d\u3092\u6c7a\u3081\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u3054\u4e21\u89aa\u304c\u30ad\u30e3\u30ea\u30a2\u3068\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u51fa\u751f\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. 1\u578b\u30843\u578b\u3068\u306f\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3069\u306e\u578b\u3082\u8457\u3057\u3044\u4f4e\u8eab\u9577\u3068\u9aa8\u306e\u5909\u5316\u304c\u307f\u3089\u308c\u3001\u75c7\u72b6\u3060\u3051\u3067\u898b\u5206\u3051\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u304c\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>1\u578b\u306f RMRP\u30012\u578b\u306f POP1\u30013\u578b\u306f NEPRO \u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3059\u30021\u578b\u3068\u540c\u3058\u907a\u4f1d\u5b50\u306b\u3088\u308b\u8edf\u9aa8\u6bdb\u9aea\u4f4e\u5f62\u6210\u75c7\u3067\u306f\u514d\u75ab\u306a\u3069\u3078\u306e\u6ce8\u610f\u304c\u5fc5\u8981\u306b\u306a\u308b\u305f\u3081\u3001<strong>\u3069\u306e\u578b\u304b\u3092\u907a\u4f1d\u5b50\u3067\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u3001\u305d\u306e\u5f8c\u306e\u5065\u5eb7\u7ba1\u7406\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5927\u4eba\u306b\u306a\u3063\u305f\u3068\u304d\u306e\u8eab\u9577\u3084\u751f\u6d3b\u306f\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u8457\u3057\u3044\u4f4e\u8eab\u9577\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u304c\u3001\u5831\u544a\u304c\u975e\u5e38\u306b\u5c11\u306a\u3044\u305f\u3081\u3001\u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u306e\u8eab\u9577\u3084\u7d4c\u904e\u3092\u6b63\u78ba\u306b\u304a\u4f1d\u3048\u3059\u308b\u3053\u3068\u306f\u307e\u3060\u3067\u304d\u307e\u305b\u3093\u3002<\/strong>\u75c7\u72b6\u306e\u91cd\u3055\u306b\u3082\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u6574\u5f62\u5916\u79d1\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u533b\u7642\u30c1\u30fc\u30e0\u304c\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u898b\u5b88\u308a\u3001\u751f\u6d3b\u306e\u5de5\u592b\u3084\u652f\u63f4\u3092\u7d9a\u3051\u3066\u3044\u304f\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>Glazov EA, Zankl A, Donskoi M, et al. Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. <em>PLoS Genet<\/em>. 2011;7(3):e1002027.<\/li>\n\n\n\n<li>Thiel CT, Horn D, Zabel B, et al. Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. <em>Am J Hum Genet<\/em>. 2005;77(5):795-806.<\/li>\n\n\n\n<li>M\u00e4kitie O, Vakkilainen S. Cartilage-Hair Hypoplasia \u2013 Anauxetic Dysplasia Spectrum Disorders. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #617396 Anauxetic dysplasia 2; ANXD2. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Unger S, Ferreira CR, Mortier GR, et al. Nosology of genetic skeletal disorders: 2023 revision. <em>Am J Med Genet A<\/em>. 2023;191(5):1164-1209.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147643","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\/147643","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\/147643\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147643"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}