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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\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u3092\u3084\u308f\u3089\u3052\u3001\u5408\u4f75\u75c7\u3092\u9632\u3050\u305f\u3081\u306e\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002<strong>\u6574\u5f62\u5916\u79d1\u30fb\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\u30fb\u5c0f\u5150\u79d1\u306a\u3069\u304c\u9023\u643a\u3057\u3066\u3001\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u898b\u5b88\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u306e\u3082\u308d\u3055\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u9aa8\u6298\u306e\u4e88\u9632\u3068\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002\u9aa8\u5bc6\u5ea6\u3092\u4e0a\u3052\u308b\u85ac\uff08\u30d3\u30b9\u30db\u30b9\u30db\u30cd\u30fc\u30c8\u88fd\u5264\u306a\u3069\uff09\u304c\u4f7f\u308f\u308c\u305f\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u52b9\u679c\u3084\u9069\u5fdc\u306f\u4e3b\u6cbb\u533b\u3068\u3088\u304f\u76f8\u8ac7\u3057\u3066\u6c7a\u3081\u307e\u3059<\/li>\n\n\n\n<li><strong>\u80cc\u9aa8\u306e\u5909\u5f62\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u75db\u307f\u306e\u7ba1\u7406\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\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>\u767d\u5185\u969c\u306e\u624b\u8853<\/strong>\uff1a\u8996\u529b\u306e\u767a\u9054\u3092\u5b88\u308b\u305f\u3081\u3001\u6642\u671f\u3092\u898b\u3066\u624b\u8853\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u5265\u96e2\u306e\u65e9\u671f\u767a\u898b<\/strong>\uff1a<strong>\u5b9a\u671f\u7684\u306a\u773c\u79d1\u691c\u8a3a\u3067\u65e9\u3081\u306b\u898b\u3064\u3051\u3001\u6cbb\u7642\u306b\u3064\u306a\u3052\u308b\u3053\u3068\u304c\u8996\u529b\u3092\u5b88\u308b\u3046\u3048\u3067\u91cd\u8981\u3067\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u96e3\u8074\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u8074\u529b\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u3001\u88dc\u8074\u5668\u306a\u3069\u3067\u8a00\u8449\u306e\u767a\u9054\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u5b66\u6821\u751f\u6d3b\u30fb\u65e5\u5e38\u751f\u6d3b\u306e\u652f\u63f4<\/strong>\uff1a\u9aa8\u6298\u3057\u306b\u304f\u3044\u74b0\u5883\u3065\u304f\u308a\u3084\u3001\u898b\u3048\u65b9\u30fb\u805e\u3053\u3048\u65b9\u306b\u5408\u308f\u305b\u305f\u914d\u616e\u3092\u884c\u3044\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>XYLT2<\/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>XYLT2<\/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\">\u810a\u690e\u773c\u75c7\u5019\u7fa4\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u3067\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>XYLT2<\/strong> \u306f\u30ad\u30b7\u30ed\u30fc\u30b9\u8ee2\u79fb\u9175\u7d202\uff08xylosyltransferase 2\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3001<strong>\u30d7\u30ed\u30c6\u30aa\u30b0\u30ea\u30ab\u30f3\u306e\u30b3\u30a2\u305f\u3093\u3071\u304f\u8cea\u306e\u30bb\u30ea\u30f3\u6b8b\u57fa\u306b\u30ad\u30b7\u30ed\u30fc\u30b9\u3092\u4ed8\u52a0\u3059\u308b\u53cd\u5fdc<\/strong>\u3092\u89e6\u5a92\u3059\u308b\u3002\u3053\u308c\u306f\u30d8\u30d1\u30e9\u30f3\u786b\u9178\u30fb\u30b3\u30f3\u30c9\u30ed\u30a4\u30c1\u30f3\u786b\u9178\u30fb\u30c7\u30eb\u30de\u30bf\u30f3\u786b\u9178\u306a\u3069\u306e\u30b0\u30ea\u30b3\u30b5\u30df\u30ce\u30b0\u30ea\u30ab\u30f3\uff08GAG\uff09\u9396\u306b\u5171\u901a\u3059\u308b<strong>\u56db\u7cd6\u30ea\u30f3\u30ab\u30fc\uff08Xyl-Gal-Gal-GlcA\uff09\u5408\u6210\u306e\u5f8b\u901f\u7684\u306a\u6700\u521d\u306e\u6bb5\u968e<\/strong>\u3067\u3042\u308b\u3002\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308aGAG\u9396\u306e\u4ed8\u52a0\u304c\u5168\u4f53\u3068\u3057\u3066\u4f4e\u4e0b\u3057\u3001\u9aa8\u30fb\u773c\u30fb\u5185\u8033\u306e\u7d30\u80de\u5916\u57fa\u8cea\u306e\u69cb\u7bc9\u304c\u969c\u5bb3\u3055\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u672c\u75c7\u306f <strong>XYLT2 \u306e\u4e21\u30a2\u30ec\u30eb\u6a5f\u80fd\u55aa\u5931\u5909\u7570\uff08\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u30fb\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30df\u30b9\u30bb\u30f3\u30b9\uff09<\/strong>\u3067\u751f\u3058\u30012015\u5e74\u306b\u8907\u6570\u5bb6\u7cfb\u306e\u89e3\u6790\u304b\u3089\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u540c\u5b9a\u3055\u308c\u305f\u3002<strong>\u56db\u7cd6\u30ea\u30f3\u30ab\u30fc\u5408\u6210\u969c\u5bb3\uff08\u3044\u308f\u3086\u308b\u300c\u30ea\u30f3\u30b1\u30ed\u30d1\u30c1\u30fc\u300d\uff09\u306e\u4e00\u3064<\/strong>\u306b\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3001\u540c\u3058\u7d4c\u8def\u306e <em>B4GALT7<\/em>\u30fb<em>B3GALT6<\/em>\uff08\u30a8\u30fc\u30e9\u30b9\u30fb\u30c0\u30f3\u30ed\u30b9\u75c7\u5019\u7fa4\u306e\u810a\u690e\u7570\u5f62\u6210\u578b\u306a\u3069\uff09\u3001<em>B3GAT3<\/em>\u3001\u30d1\u30e9\u30ed\u30b0\u306e <em>XYLT1<\/em>\uff08\u30c7\u30b9\u30d6\u30ad\u578b\u9aa8\u7570\u5f62\u6210\u75c72\u578b\uff09\u3068\u8868\u73fe\u578b\u306e\u4e00\u90e8\u304c\u91cd\u306a\u308b\u3002<strong>\u672c\u75c7\u3067\u306f\u95a2\u7bc0\u5f1b\u7de9\u3084\u76ae\u819a\u6240\u898b\u3088\u308a\u3082\u3001\u9aa8\u8106\u5f31\u6027\u30fb\u6241\u5e73\u690e\u306b\u3001\u82e5\u5e74\u6027\u767d\u5185\u969c\u30fb\u7db2\u819c\u5265\u96e2\u30fb\u611f\u97f3\u96e3\u8074\u304c\u5408\u4f75\u3059\u308b\u70b9\u304c\u7279\u5fb4\u7684<\/strong>\u3067\u3042\u308b\u3002<em>Xylt2<\/em> \u6b20\u640d\u30de\u30a6\u30b9\u3067\u306f\u809d\u30fb\u814e\u306e\u56a2\u80de\u6027\u75c5\u5909\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u30d2\u30c8\u3067\u306e\u81d3\u5668\u56a2\u80de\u306e\u983b\u5ea6\u306f\u660e\u3089\u304b\u3067\u306a\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\uff08<em>COL1A1<\/em>\/<em>COL1A2<\/em> \u307b\u304b\uff09\u3001\u9aa8\u7c97\u9b06\u75c7\u507d\u795e\u7d4c\u81a0\u816b\u75c7\u5019\u7fa4\uff08<em>LRP5<\/em>\u3001\u773c\u75c7\u72b6\u3068\u9aa8\u8106\u5f31\u6027\u3092\u4f75\u305b\u3082\u3064\uff09\u3001\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4\uff08<em>COL2A1<\/em> \u307b\u304b\u3001\u9ad8\u5ea6\u8fd1\u8996\u30fb\u7db2\u819c\u5265\u96e2\u30fb\u96e3\u8074\uff09\u3001\u4e0a\u8a18\u30ea\u30f3\u30b1\u30ed\u30d1\u30c1\u30fc\u7fa4\u304c\u6319\u304c\u308b\u3002<strong>\u907a\u4f1d\u5f62\u5f0f\u306f\u9855\u6027\uff08\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7\u306e\u591a\u304f\u3001\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4\u306e\u591a\u304f\uff09\u3068\u6f5c\u6027\u3067\u7570\u306a\u308a\u3001\u6b21\u5b50\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u5909\u308f\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>2\u5206\u306e1\u306e\u78ba\u7387\u3067\u3054\u4e21\u89aa\u3068\u540c\u3058\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u306b\u30014\u5206\u306e1\u306e\u78ba\u7387\u3067\u5909\u5316\u3092\u53d7\u3051\u7d99\u304c\u306a\u3044\u304a\u5b50\u3055\u307e\u306b\u306a\u308a\u307e\u3059\u3002<strong>\u9aa8\u304c\u3082\u308d\u304f\u306a\u308b\u75c5\u6c17\u306b\u306f\u9855\u6027\u907a\u4f1d\u306e\u3082\u306e\u3082\u591a\u304f\u3001\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\u306f\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u898b\u3048\u306b\u304f\u304f\u3001\u591a\u304f\u306f\u751f\u307e\u308c\u3066\u304b\u3089\u9aa8\u6298\u3084\u767d\u5185\u969c\u3092\u304d\u3063\u304b\u3051\u306b\u6c17\u3065\u304b\u308c\u307e\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\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. \u76ee\u306e\u75c7\u72b6\u306f\u3069\u306e\u304f\u3089\u3044\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u767d\u5185\u969c\u3084\u7db2\u819c\u5265\u96e2\u306f\u8996\u529b\u306b\u5927\u304d\u304f\u5f71\u97ff\u3059\u308b\u305f\u3081\u3001\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3089\u65e9\u3044\u3046\u3061\u304b\u3089\u5b9a\u671f\u7684\u306b\u773c\u79d1\u3067\u8a3a\u3066\u3082\u3089\u3046\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong>\u767d\u5185\u969c\u306f\u624b\u8853\u3067\u5bfe\u5fdc\u3067\u304d\u3001\u7db2\u819c\u5265\u96e2\u3082\u65e9\u304f\u898b\u3064\u3051\u308b\u307b\u3069\u6cbb\u7642\u306e\u9078\u629e\u80a2\u304c\u5e83\u304c\u308a\u307e\u3059\u3002\u898b\u3048\u65b9\u306e\u5909\u5316\u306b\u6c17\u3065\u3044\u305f\u3089\u3001\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u666e\u901a\u306b\u5b66\u6821\u306b\u901a\u3063\u305f\u308a\u3001\u5927\u4eba\u306b\u306a\u3063\u305f\u308a\u3067\u304d\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\u6210\u4eba\u671f\u307e\u3067\u6210\u9577\u3057\u3066\u304a\u308a\u3001\u547d\u306b\u304b\u304b\u308f\u308b\u75c5\u6c17\u3067\u306f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u9aa8\u6298\u3084\u898b\u3048\u65b9\u30fb\u805e\u3053\u3048\u65b9\u3078\u306e\u914d\u616e\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u5831\u544a\u4f8b\u304c\u5c11\u306a\u304f\u9577\u671f\u306e\u898b\u901a\u3057\u306f\u307e\u3060\u5341\u5206\u306b\u308f\u304b\u3063\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u751f\u6d3b\u306e\u5de5\u592b\u3092\u8003\u3048\u3066\u3044\u304d\u307e\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>Munns CF, Fahiminiya S, Poudel N, et al. Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. <em>Am J Hum Genet<\/em>. 2015;96(6):971-978.<\/li>\n\n\n\n<li>Taylan F, Costantini A, Coles N, et al. Spondyloocular syndrome: novel mutations in XYLT2 gene and expansion of the phenotypic spectrum. <em>J Bone Miner Res<\/em>. 2016;31(8):1577-1585.<\/li>\n\n\n\n<li>Condac E, Silasi-Mansat R, Kosanke S, et al. Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis. <em>Proc Natl Acad Sci U S A<\/em>. 2007;104(24):9416-9421.<\/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 #605822 Spondyloocular syndrome; SOS. 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-158759","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\/158759","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\/158759\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=158759"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}