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\u907a\u4f1d\u5b50\u306b\u3001\u7236\u65b9\u7531\u6765\u3068\u6bcd\u65b9\u7531\u6765\u305d\u308c\u305e\u308c\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002\u75c7\u72b6\u304c\u4f3c\u3066\u3044\u308b CHARGE \u75c7\u5019\u7fa4\u306a\u3069\u3068\u306f\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\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\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u305f\u3060\u3057\u3001<strong>\u4e00\u3064\u3072\u3068\u3064\u306e\u75c7\u72b6\u306b\u306f\u624b\u8853\u3084\u30ea\u30cf\u30d3\u30ea\u306a\u3069\u306e\u6cbb\u7642\u304c\u3042\u308a\u3001\u9069\u5207\u306a\u6cbb\u7642\u3068\u652f\u63f4\u3092\u53d7\u3051\u306a\u304c\u3089\u6210\u9577\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/strong>\u8033\u9f3b\u79d1\u30fb\u5f62\u6210\u5916\u79d1\u30fb\u773c\u79d1\u30fb\u5c0f\u5150\u79d1\u30fb\u5fc3\u81d3\u306e\u5c02\u9580\u533b\u306a\u3069\u304c\u5354\u529b\u3057\u3066\u8a3a\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5f8c\u9f3b\u5b54\u9589\u9396\u306e\u6cbb\u7642<\/strong>\uff1a\u751f\u307e\u308c\u305f\u76f4\u5f8c\u306f\u7a7a\u6c17\u306e\u901a\u308a\u9053\u3092\u78ba\u4fdd\u3057\u3001\u305d\u306e\u5f8c\u3001\u9f3b\u306e\u5965\u3092\u958b\u304f\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002\u624b\u8853\u5f8c\u306b\u307e\u305f\u72ed\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u7d4c\u904e\u3092\u307f\u3066\u3044\u304d\u307e\u3059<\/li>\n\n\n\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\u3053\u3068\u3070\u306e\u8a13\u7df4\u3001\u6b6f\u306e\u77ef\u6b63\u306a\u3069\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u96e3\u8074\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u65e9\u3081\u306b\u8074\u529b\u3092\u8abf\u3079\u3001\u88dc\u8074\u5668\u306a\u3069\u3092\u4f7f\u3063\u3066\u3001\u3053\u3068\u3070\u306e\u767a\u9054\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u76ee\u306e\u4fdd\u8b77<\/strong>\uff1a\u307e\u3076\u305f\u306e\u6b20\u3051\u306e\u305f\u3081\u306b\u76ee\u304c\u4e7e\u304d\u3084\u3059\u3044\u5834\u5408\u306f\u3001\u76ee\u85ac\u3084\u624b\u8853\u3067\u76ee\u306e\u8868\u9762\uff08\u89d2\u819c\uff09\u3092\u5b88\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u306e\u75c5\u6c17\u306e\u6cbb\u7642<\/strong>\uff1a\u7a2e\u985e\u3068\u7a0b\u5ea6\u306b\u5fdc\u3058\u3066\u3001\u7d4c\u904e\u3092\u307f\u308b\u304b\u624b\u8853\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u6cbb\u7642\u304c\u9577\u304f\u7d9a\u304f\u3053\u3068\u3082\u591a\u3044\u305f\u3081\u3001\u7d99\u7d9a\u7684\u306a\u76f8\u8ac7\u3068\u652f\u3048\u304c\u5927\u5207\u3067\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>TXNL4A<\/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>TXNL4A<\/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>TXNL4A<\/strong>\uff08DIB1\uff09\u306f<strong>U5 snRNP \u304a\u3088\u3073 U4\/U6.U5 \u30c8\u30ea snRNP \u306e\u69cb\u6210\u56e0\u5b50<\/strong>\u3067\u3001\u30b9\u30d7\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u306e\u6d3b\u6027\u5316\u904e\u7a0b\u306b\u95a2\u4e0e\u3059\u308b\u3002<strong>\u30b3\u30a2\u30b9\u30d7\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u56e0\u5b50\u306e\u90e8\u5206\u7684\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u308a\u982d\u84cb\u9854\u9762\u306e\u5f62\u6210\u7570\u5e38\u3092\u5448\u3059\u308b\u70b9\u3067\u3001EFTUD2\uff08\u4e0b\u984e\u9854\u9762\u7570\u9aa8\u75c7 Guion-Almeida \u578b\uff09\u3001SF3B4\uff08Nager \u75c7\u5019\u7fa4\uff09\u3001SNRPB\uff08\u8133\u30fb\u808b\u9aa8\u30fb\u4e0b\u984e\u75c7\u5019\u7fa4\uff09\u306a\u3069\u3068\u4e26\u3076\u300c\u30b9\u30d7\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u75c5\u300d\u306e\u4e00\u3064<\/strong>\u306b\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">Wieczorek \u3089\u306e\u89e3\u6790\uff082014\uff09\u3067\u306f\u3001<strong>\u591a\u304f\u306e\u60a3\u8005\u304c\u3001TXNL4A \u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u9818\u57df\u306e\u4f4e\u983b\u5ea6\u6b20\u5931\u3068\u3001\u53cd\u5bfe\u30a2\u30ec\u30eb\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u30fb\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u306e\u5909\u7570\u306a\u3069\uff09\u3068\u306e\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408<\/strong>\u3067\u3042\u3063\u305f\u3002\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u6b20\u5931\u306f\u8ee2\u5199\u6d3b\u6027\u3092\u4f4e\u4e0b\u3055\u305b\u308b\u304c\u3001<strong>\u5358\u72ec\u3067\u306f\u767a\u75c7\u306b\u81f3\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b<\/strong>\u3002\u4e00\u65b9\u3001\u4e21\u30a2\u30ec\u30eb\u306e\u5b8c\u5168\u306a\u6a5f\u80fd\u55aa\u5931\u306f\u751f\u5b58\u3068\u4e21\u7acb\u3057\u306a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002\u3059\u306a\u308f\u3061\u3001<strong>\u300c\u4f4e\u767a\u73fe\u30a2\u30ec\u30eb\uff0b\u6a5f\u80fd\u55aa\u5931\u30a2\u30ec\u30eb\u300d\u306b\u3088\u308b\u6b8b\u5b58\u6a5f\u80fd\u306e\u91cf\u7684\u306a\u95be\u5024<\/strong>\u304c\u8868\u73fe\u578b\u3092\u6c7a\u3081\u308b\u3068\u3044\u3046\u30e2\u30c7\u30eb\u304c\u63d0\u5531\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u5b9f\u52d9\u4e0a\u306e\u6ce8\u610f\u70b9\u3068\u3057\u3066\u3001\u4e3b\u8981\u306a\u539f\u56e0\u30a2\u30ec\u30eb\u304c\u30b3\u30fc\u30c7\u30a3\u30f3\u30b0\u9818\u57df\u5916\u306e\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u6b20\u5931\u3067\u3042\u308b\u305f\u3081\u3001\u30a8\u30af\u30bd\u30f3\u3092\u4e3b\u306a\u5bfe\u8c61\u3068\u3059\u308b\u89e3\u6790\u3067\u691c\u51fa\u3067\u304d\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u7cfb\u306e\u8a2d\u8a08\uff08\u89e3\u6790\u5bfe\u8c61\u9818\u57df\u30fb\u5c0f\u6b20\u5931\u306e\u691c\u51fa\u80fd\uff09\u306b\u5de6\u53f3\u3055\u308c\u308b\u3002<\/strong>\u4fdd\u56e0\u8005\u5224\u5b9a\u3084\u5bb6\u7cfb\u5185\u89e3\u6790\u3067\u306f\u3001\u767a\u7aef\u8005\u3067\u540c\u5b9a\u3055\u308c\u305f\u30d0\u30ea\u30a2\u30f3\u30c8\u306e\u7a2e\u985e\u3092\u78ba\u8a8d\u3057\u305f\u3046\u3048\u3067\u89e3\u91c8\u3059\u308b\u5fc5\u8981\u304c\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001<strong>CHARGE \u75c7\u5019\u7fa4<\/strong>\uff08<em>CHD7<\/em>\u3001\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u9855\u6027\u3002\u5f8c\u9f3b\u5b54\u9589\u9396\u30fb\u30b3\u30ed\u30dc\u30fc\u30de\u30fb\u96e3\u8074\u30fb\u5fc3\u75be\u60a3\u304c\u91cd\u306a\u308b\uff09\u3001\u30c8\u30ea\u30fc\u30c1\u30e3\u30fc\u30fb\u30b3\u30ea\u30f3\u30ba\u75c7\u5019\u7fa4\uff08<em>TCOF1<\/em> \u306a\u3069\u3002\u4e0b\u773c\u77bc\u306e\u6b20\u640d\u3068\u982c\u9aa8\u4f4e\u5f62\u6210\uff09\u3001\u4e0a\u8a18\u306e\u30b9\u30d7\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u75c5\u304c\u6319\u304c\u308b\u3002<strong>\u672c\u75c7\u3067\u306f\u3001\u8679\u5f69\u30fb\u7db2\u819c\u3067\u306f\u306a\u304f\u4e0b\u773c\u77bc\u306e\u30b3\u30ed\u30dc\u30fc\u30de\u3067\u3042\u308b\u3053\u3068\u3001\u982c\u9aa8\u4f4e\u5f62\u6210\u3084\u5c0f\u984e\u304c\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u304c\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u3002\u305f\u3060\u3057\u8868\u73fe\u578b\u306e\u91cd\u306a\u308a\u306f\u5927\u304d\u304f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u518d\u767a\u7387\u306e\u8aac\u660e\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\u3092\u793a\u3059 CHARGE \u75c7\u5019\u7fa4\u306f\u3001\u591a\u304f\u304c\u5076\u7136\u8d77\u3053\u308b\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\uff09\u3082\u306e\u3067\u3001\u518d\u767a\u7387\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3059\u3002<strong>\u3053\u306e\u3088\u3046\u306b\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>\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u53e3\u5507\u88c2\u3084\u5fc3\u81d3\u306e\u75c5\u6c17\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u5206\u304b\u308b\u3053\u3068\u306f\u307e\u308c\u3067\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u5206\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. \u751f\u307e\u308c\u3066\u3059\u3050\u306b\u5fc5\u8981\u306a\u5bfe\u5fdc\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u8d64\u3061\u3083\u3093\u306f\u4e3b\u306b\u9f3b\u3067\u547c\u5438\u3059\u308b\u305f\u3081\u3001\u5de6\u53f3\u4e21\u65b9\u306e\u5f8c\u9f3b\u5b54\u9589\u9396\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u751f\u307e\u308c\u305f\u76f4\u5f8c\u304b\u3089\u7a7a\u6c17\u306e\u901a\u308a\u9053\u3092\u78ba\u4fdd\u3059\u308b\u51e6\u7f6e\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u3053\u306e\u75c5\u6c17\u306e\u53ef\u80fd\u6027\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u65b0\u751f\u5150\u306e\u6cbb\u7642\u304c\u3067\u304d\u308b\u65bd\u8a2d\u3067\u51fa\u7523\u3067\u304d\u308b\u3088\u3046\u3001\u3042\u3089\u304b\u3058\u3081\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u7684\u306a\u767a\u9054\u3084\u5c06\u6765\u306e\u751f\u6d3b\u306f\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306f\u3001\u77e5\u7684\u306a\u767a\u9054\u304c\u304a\u304a\u3080\u306d\u6b63\u5e38\u3067\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u96e3\u8074\u304c\u3042\u308b\u3068\u3053\u3068\u3070\u306e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001<strong>\u65e9\u3081\u306b\u8074\u529b\u3092\u8abf\u3079\u3001\u88dc\u8074\u5668\u306a\u3069\u3067\u652f\u3048\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong>\u5831\u544a\u4f8b\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u9577\u3044\u76ee\u3067\u898b\u305f\u898b\u901a\u3057\u306f\u4e3b\u6cbb\u533b\u3068\u3088\u304f\u76f8\u8ac7\u3057\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>Wieczorek D, Newman WG, Wieland T, et al. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. <em>Am J Hum Genet<\/em>. 2014;95(6):698-707.<\/li>\n\n\n\n<li>Burn J, McKeown C, Wagget J, Bray R, Goodship J. New dysmorphic syndrome with choanal atresia in siblings. <em>Clin Dysmorphol<\/em>. 1992;1(3):137-144.<\/li>\n\n\n\n<li>Lehalle D, Wieczorek D, Zechi-Ceide RM, et al. A review of craniofacial disorders caused by spliceosomal defects. <em>Clin Genet<\/em>. 2015;88(5):405-415.<\/li>\n\n\n\n<li>OMIM #608572 Burn-McKeown syndrome; BMKS. 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-147762","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\/147762","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\/147762\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147762"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}