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class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u30c9\u30cd\u30fc\u30fb\u30d0\u30ed\u30fc\u75c7\u5019\u7fa4\u3067\u306f <strong>LRP2<\/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\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3084\u96e3\u8074\u306f\u591a\u304f\u306e\u5225\u306e\u75c5\u6c17\u3067\u3082\u8d77\u3053\u308b\u305f\u3081\u3001<strong>\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u3001\u304a\u5b50\u3055\u307e\u306e\u4eca\u5f8c\u306e\u898b\u901a\u3057\u3068\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\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>\u6cbb\u7642\u306f\u3001<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\u3092\u652f\u3048\u308b\u652f\u63f4<\/strong>\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u5354\u529b\u3057\u3066\u898b\u5b88\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u30fb\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\u306e\u6cbb\u7642<\/strong>\uff1a\u51fa\u751f\u524d\u306b\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\u3068\u5c0f\u5150\u5916\u79d1\u306e\u624b\u8853\u304c\u3067\u304d\u308b\u65bd\u8a2d\u3067\u306e\u51fa\u7523\u3092\u8a08\u753b\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u304d\u3053\u3048\u306e\u652f\u63f4<\/strong>\uff1a\u65e9\u3044\u6642\u671f\u304b\u3089\u306e\u88dc\u8074\u5668\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u4eba\u5de5\u5185\u8033\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<strong>\u8a00\u8449\u306e\u767a\u9054\u306e\u305f\u3081\u306b\u3001\u65e9\u304f\u898b\u3064\u3051\u3066\u65e9\u304f\u652f\u63f4\u3092\u59cb\u3081\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u76ee\u306e\u7ba1\u7406<\/strong>\uff1a\u773c\u93e1\u306a\u3069\u3067\u306e\u8fd1\u8996\u306e\u77ef\u6b63\u3068\u3001<strong>\u7db2\u819c\u5265\u96e2\u3092\u65e9\u304f\u898b\u3064\u3051\u308b\u305f\u3081\u306e\u5b9a\u671f\u7684\u306a\u773c\u79d1\u8a3a\u5bdf<\/strong><\/li>\n\n\n\n<li><strong>\u814e\u81d3\u306e\u7d4c\u904e\u89b3\u5bdf<\/strong>\uff1a\u305f\u3093\u3071\u304f\u5c3f\u3084\u814e\u81d3\u306e\u306f\u305f\u3089\u304d\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u652f\u63f4<\/strong>\uff1a\u7642\u80b2\u3001\u8a00\u8a9e\u8a13\u7df4\u3001\u6559\u80b2\u9762\u3067\u306e\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\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>LRP2<\/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>LRP2<\/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\u304a\u5b50\u3055\u307e\u3054\u3068\u306b<strong>4\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>LRP2<\/strong> \u306f LDL \u53d7\u5bb9\u4f53\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b\u7d04600 kDa \u306e\u5de8\u5927\u306a\u5358\u56de\u819c\u8cab\u901a\u578b\u30a8\u30f3\u30c9\u30b5\u30a4\u30c8\u30fc\u30b7\u30b9\u53d7\u5bb9\u4f53<strong>\u30e1\u30ac\u30ea\u30f3<\/strong>\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002\u30e1\u30ac\u30ea\u30f3\u306f\u814e\u8fd1\u4f4d\u5c3f\u7d30\u7ba1\u306e\u5237\u5b50\u7e01\u306b\u8c4a\u5bcc\u306b\u767a\u73fe\u3057\u3001<strong>\u30ec\u30c1\u30ce\u30fc\u30eb\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u3001\u30d3\u30bf\u30df\u30f3D\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u306a\u3069\u7cf8\u7403\u4f53\u3092\u901a\u904e\u3057\u305f\u4f4e\u5206\u5b50\u30bf\u30f3\u30d1\u30af\u306e\u518d\u5438\u53ce<\/strong>\u3092\u62c5\u3046\u3002\u3053\u306e\u305f\u3081\u672c\u75c7\u3067\u306f<strong>\u5c3f\u4e2d\u4f4e\u5206\u5b50\u30bf\u30f3\u30d1\u30af\uff08\u30ec\u30c1\u30ce\u30fc\u30eb\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u3001\u30d3\u30bf\u30df\u30f3D\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u306a\u3069\uff09\u306e\u5897\u52a0\u304c\u307b\u307c\u5168\u4f8b\u306b\u307f\u3089\u308c\u3001\u8a3a\u65ad\u4e0a\u306e\u6709\u7528\u306a\u30de\u30fc\u30ab\u30fc\u3068\u306a\u308b<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u80ce\u751f\u671f\u306b\u306f\u795e\u7d4c\u4e0a\u76ae\u306b\u767a\u73fe\u3057\u3001<strong>\u30bd\u30cb\u30c3\u30af\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff08SHH\uff09\u30b7\u30b0\u30ca\u30eb\u306e\u5171\u53d7\u5bb9\u4f53\u3068\u3057\u3066\u524d\u8133\u8179\u5074\u6b63\u4e2d\u90e8\u306e\u5f62\u6210\u306b\u304b\u304b\u308f\u308b<\/strong>\u3002<em>Lrp2<\/em> \u6b20\u640d\u30de\u30a6\u30b9\u3067\u306f\u5168\u524d\u8133\u80de\u75c7\u69d8\u306e\u524d\u8133\u5f62\u6210\u7570\u5e38\u3068\u9854\u9762\u6b63\u4e2d\u306e\u7570\u5e38\u304c\u751f\u3058\u3001\u672c\u75c7\u306e\u773c\u9593\u958b\u96e2\u30fb\u8133\u6881\u6b20\u640d\u3068\u306e\u95a2\u9023\u304c\u793a\u5506\u3055\u308c\u308b\u3002\u773c\u3067\u306f\u6bdb\u69d8\u4f53\u4e0a\u76ae\u306a\u3069\u3067\u306e\u767a\u73fe\u304c\u773c\u7403\u306e\u5927\u304d\u3055\u306e\u8abf\u7bc0\u306b\u95a2\u4e0e\u3057\u3001<strong>\u9ad8\u5ea6\u8fd1\u8996\u30fb\u773c\u8ef8\u5ef6\u9577<\/strong>\u306e\u80cc\u666f\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<strong>Donnai \u3068 Barrow \u304c1993\u5e74\u306b\u5831\u544a\u3057\u305f\u75c7\u5019\u7fa4\u3068\u3001\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u30fb\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\u3092\u6b20\u304f FOAR \u75c7\u5019\u7fa4\u306f\u30012007\u5e74\u306b Kantarci \u3089\u306b\u3088\u308a\u540c\u4e00\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u6027\u6a5f\u80fd\u55aa\u5931\u5909\u7570\u306b\u3088\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3001\u73fe\u5728\u306f\u5358\u4e00\u306e\u75be\u60a3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08DB\/FOAR\uff09\u3068\u3057\u3066\u6271\u308f\u308c\u308b<\/strong>\u3002\u540c\u80de\u9593\u3067\u3082\u30d8\u30eb\u30cb\u30a2\u306e\u6709\u7121\u306f\u4e00\u81f4\u3057\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u3001\u8868\u73fe\u578b\u306e\u5e45\u306f\u5e83\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3092\u4f34\u3046 Fryns \u75c7\u5019\u7fa4\u3001Pallister-Killian \u75c7\u5019\u7fa4\uff0812p <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\uff09\u3001\u773c\u9593\u958b\u96e2\u3092\u793a\u3059\u982d\u84cb\u524d\u982d\u9f3b\u75c7\u5019\u7fa4\uff08<em>EFNB1<\/em>\u3001X\u9023\u9396\uff09\u3001\u9ad8\u5ea6\u8fd1\u8996\u3068\u96e3\u8074\u3092\u793a\u3059 Stickler \u75c7\u5019\u7fa4\uff08\u591a\u304f\u306f\u9855\u6027\uff09\u3001\u4f4e\u5206\u5b50\u30bf\u30f3\u30d1\u30af\u5c3f\u3092\u793a\u3059 Dent \u75c5\uff08<em>CLCN5<\/em>\u3001X\u9023\u9396\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u3001\u6b21\u5b50\u518d\u767a\u7387\u304c\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>\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3084\u96e3\u8074\u306b\u306f\u3001\u907a\u4f1d\u3057\u306a\u3044\u539f\u56e0\u3084\u5225\u306e\u907a\u4f1d\u5f62\u5f0f\u306e\u3082\u306e\u3082\u591a\u304f\u3042\u308a\u307e\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>\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3084\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\u3001\u8133\u6881\u306e\u6b20\u640d\u304c\u3042\u308c\u3070\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u30d8\u30eb\u30cb\u30a2\u306e\u306a\u3044\u5834\u5408\u306f\u598a\u5a20\u4e2d\u306b\u306f\u5206\u304b\u308a\u306b\u304f\u304f\u3001\u8fd1\u8996\u3084\u96e3\u8074\u306f\u51fa\u751f\u5f8c\u306b\u5206\u304b\u308a\u307e\u3059\u3002\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\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. \u300cFOAR\u75c7\u5019\u7fa4\u300d\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>FOAR\u75c7\u5019\u7fa4\u306f\u3001\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3084\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\u3092\u3068\u3082\u306a\u308f\u306a\u3044\u5834\u5408\u306b\u4f7f\u308f\u308c\u3066\u304d\u305f\u540d\u524d\u3067\u3001\u73fe\u5728\u306f\u30c9\u30cd\u30fc\u30fb\u30d0\u30ed\u30fc\u75c7\u5019\u7fa4\u3068\u540c\u3058 LRP2 \u907a\u4f1d\u5b50\u306e\u75c5\u6c17\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u76ee\u30fb\u8033\u30fb\u814e\u81d3\u306e\u75c7\u72b6\u3078\u306e\u5bfe\u5fdc\u3084\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306e\u8003\u3048\u65b9\u306f\u540c\u3058\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6210\u9577\u3059\u308b\u3068\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u751f\u307e\u308c\u305f\u3042\u3068\u306e\u7d4c\u904e\u306f\u3001\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u306e\u6709\u7121\u3068\u91cd\u3055\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/strong>\u65b0\u751f\u5150\u671f\u3092\u4e57\u308a\u8d8a\u3048\u305f\u3042\u3068\u306f\u3001\u96e3\u8074\u3068\u8fd1\u8996\u3078\u306e\u65e9\u3081\u306e\u5bfe\u5fdc\u3001\u7db2\u819c\u5265\u96e2\u306e\u898b\u5f35\u308a\u3001\u767a\u9054\u306e\u652f\u63f4\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u305d\u308c\u305e\u308c\u306e\u304a\u5b50\u3055\u307e\u306b\u5408\u3063\u305f\u6210\u9577\u3092\u652f\u3048\u3066\u3044\u304d\u307e\u3059\u3002\u767a\u9054\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u4e00\u5f8b\u306b\u306f\u8a00\u3048\u307e\u305b\u3093\u3002\u533b\u7642\u30c1\u30fc\u30e0\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>Kantarci S, Donnai D, Noonan KM, Pober BR. Donnai-Barrow Syndrome. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #222448 Donnai-Barrow syndrome. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Kantarci S, Al-Gazali L, Hill RS, et al. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. <em>Nat Genet<\/em>. 2007;39(8):957-959.<\/li>\n\n\n\n<li>Donnai D, Barrow M. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? <em>Am J Med Genet<\/em>. 1993;47(5):679-682.<\/li>\n\n\n\n<li>Pober BR, Longoni M, Noonan KM. A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB\/FOAR) syndrome: clinical features and differential diagnosis. <em>Birth Defects Res A Clin Mol Teratol<\/em>. 2009;85(1):76-81.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147923","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\/147923","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\/147923\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147923"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}