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class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u56db\u80a2\u306e\u6975\u7aef\u306a\u77ed\u7e2e<\/strong>\uff1a\u624b\u8db3\u304c\u975e\u5e38\u306b\u77ed\u304f\u3001\u80f4\u4f53\u3082\u77ed\u304f\u306a\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u72ed\u3044\u80f8\u90ed\u3068\u80ba\u306e\u4f4e\u5f62\u6210<\/strong>\uff1a<strong>\u3053\u306e\u75c5\u6c17\u306e\u4e88\u5f8c\u3092\u6c7a\u3081\u308b\u6700\u3082\u91cd\u8981\u306a\u6240\u898b\u3067\u3059<\/strong><\/li>\n\n\n\n<li><strong>\u5927\u304d\u304f\u898b\u3048\u308b\u982d\u90e8<\/strong>\uff08\u4f53\u5e79\u3068\u56db\u80a2\u304c\u77ed\u3044\u305f\u3081\u76f8\u5bfe\u7684\u306b\u5927\u304d\u304f\u898b\u3048\u307e\u3059\uff09<\/li>\n\n\n\n<li>\u6241\u5e73\u306a\u9854\u3064\u304d\u3001\u77ed\u3044\u9996<\/li>\n\n\n\n<li><strong>\u80ce\u5150\u6c34\u816b\u3001\u7f8a\u6c34\u904e\u591a<\/strong>\uff1a\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6307\u6458\u3055\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u9aa8\u5316\u306e\u8457\u3057\u3044\u4e0d\u826f\uff1aX\u7dda\u3067\u690e\u4f53\u3084\u9aa8\u76e4\u304c\u307b\u3068\u3093\u3069\u5199\u308a\u307e\u305b\u3093<\/li>\n\n\n\n<li><strong>\u591a\u304f\u306f\u6b7b\u7523\u3001\u307e\u305f\u306f\u751f\u5f8c\u307e\u3082\u306a\u304f\u547c\u5438\u4e0d\u5168\u3067\u4ea1\u304f\u306a\u308a\u307e\u3059<\/strong><\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p><strong>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb<\/strong>\u3067\u3001\u56db\u80a2\u306e\u8457\u3057\u3044\u77ed\u7e2e\u3001\u72ed\u3044\u80f8\u90ed\u3001\u690e\u4f53\u306e\u9aa8\u5316\u4e0d\u826f\u3001\u80ce\u5150\u6c34\u816b\u304b\u3089\u7591\u308f\u308c\u307e\u3059\u3002\u51fa\u751f\u5f8c\uff08\u307e\u305f\u306f\u6b7b\u7523\u5f8c\uff09\u306eX\u7dda\u691c\u67fb\u3067\u306f\u3001<strong>\u690e\u4f53\u30fb\u4ed9\u9aa8\u30fb\u6065\u9aa8\u306e\u9aa8\u5316\u304c\u307b\u3068\u3093\u3069\u8a8d\u3081\u3089\u308c\u306a\u3044<\/strong>\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u8edf\u9aa8\u7121\u767a\u751f\u75c71B\u578b\u3067\u306f <strong>SLC26A2<\/strong> 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class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u51fa\u751f\u524d\u306b\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u306f\u3001<strong>\u3054\u5bb6\u65cf\u3068\u533b\u7642\u30c1\u30fc\u30e0\u304c\u5341\u5206\u306b\u8a71\u3057\u5408\u3044\u3001\u51fa\u751f\u5f8c\u306e\u65b9\u91dd\u3092\u3042\u3089\u304b\u3058\u3081\u6c7a\u3081\u3066\u304a\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u51fa\u751f\u524d\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u8a3a\u65ad\u3001\u898b\u901a\u3057\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\n<li><strong>\u5206\u5a29\u65b9\u6cd5\u3068\u51fa\u751f\u5f8c\u306e\u5bfe\u5fdc\u306e\u4e8b\u524d\u306e\u8a71\u3057\u5408\u3044<\/strong>\uff1a\u547c\u5438\u306e\u88dc\u52a9\u3092\u3069\u3053\u307e\u3067\u884c\u3046\u304b\u3092\u542b\u3081\u3001\u3054\u5bb6\u65cf\u306e\u610f\u5411\u3092\u5c0a\u91cd\u3057\u3066\u6c7a\u3081\u307e\u3059<\/li>\n\n\n\n<li><strong>\u7de9\u548c\u30b1\u30a2<\/strong>\uff1a\u304a\u5b50\u3055\u307e\u306e\u82e6\u75db\u3092\u6700\u5c0f\u9650\u306b\u3057\u3001\u3054\u5bb6\u65cf\u304c\u904e\u3054\u3059\u6642\u9593\u3092\u5927\u5207\u306b\u3059\u308b\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4<\/strong>\uff1a\u30b0\u30ea\u30fc\u30d5\u30b1\u30a2\u3092\u542b\u3081\u3001\u7d99\u7d9a\u7684\u306a\u652f\u3048\u304c\u5fc5\u8981\u3067\u3059<\/li>\n\n\n\n<li><strong>\u3054\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u8aac\u660e\u3068\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>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>SLC26A2<\/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>\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>SLC26A2<\/strong> 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class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n<p>\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>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\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><strong>SLC26A2<\/strong>\uff08DTDST\u3001diastrophic dysplasia sulfate transporter\uff09\u306f<strong>\u7d30\u80de\u819c\u306e\u786b\u9178\uff0f\u5869\u5316\u7269\u4ea4\u63db\u8f38\u9001\u4f53<\/strong>\u3067\u3001\u8edf\u9aa8\u7d30\u80de\u3078\u306e\u7121\u6a5f\u786b\u9178\u306e\u4f9b\u7d66\u3092\u62c5\u3046\u3002\u6b20\u640d\u3059\u308b\u3068<strong>\u30d7\u30ed\u30c6\u30aa\u30b0\u30ea\u30ab\u30f3\uff08\u30a2\u30b0\u30ea\u30ab\u30f3\uff09\u306e\u30b3\u30f3\u30c9\u30ed\u30a4\u30c1\u30f3\u786b\u9178\u9396\u306e\u786b\u9178\u5316\u304c\u4f4e\u4e0b<\/strong>\u3057\u3001\u8edf\u9aa8\u57fa\u8cea\u306e\u6c34\u548c\u80fd\u3068\u529b\u5b66\u7684\u6027\u8cea\u304c\u640d\u306a\u308f\u308c\u308b\u3002<\/p>\n\n\n<p><strong>\u672c\u907a\u4f1d\u5b50\u306f\u660e\u78ba\u306a\u30a2\u30ec\u30eb\u7cfb\u5217\uff08allelic series\uff09\u3092\u5f62\u6210\u3059\u308b<\/strong>\u2014\u2014\u91cd\u75c7\u7aef\u304b\u3089\u9806\u306b\u3001<strong>\u2460\u8edf\u9aa8\u7121\u767a\u751f\u75c71B\u578b\uff08\u5468\u7523\u671f\u81f4\u6b7b\uff09\u3001\u2461\u30a2\u30c6\u30ed\u30b9\u30c6\u30aa\u30b8\u30a7\u30cd\u30b7\u30b9II\u578b\uff08\u5468\u7523\u671f\u81f4\u6b7b\u301c\u4e73\u5150\u671f\u6b7b\u4ea1\uff09\u3001\u2462\u30c0\u30a4\u30a2\u30b9\u30c8\u30ed\u30d5\u30a3\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\uff08\u751f\u5b58\u53ef\u80fd\u3001\u300c\u30d2\u30c3\u30c1\u30cf\u30a4\u30ab\u30fc\u6bcd\u6307\u300d\u3068\u8033\u4ecb\u306e\u56a2\u816b\u304c\u7279\u5fb4\uff09\u3001\u2463\u591a\u767a\u6027\u9aa8\u7aef\u7570\u5f62\u6210\u75c74\u578b\uff08rMED\u3001\u6210\u4eba\u671f\u306e\u95a2\u7bc0\u75c7\u306e\u307f\uff09<\/strong>\u3068\u306a\u308b\u3002<strong>\u6b8b\u5b58\u8f38\u9001\u6d3b\u6027\u306e\u7a0b\u5ea6\u304c\u8868\u73fe\u578b\u3092\u898f\u5b9a\u3057\u3001\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u3067\u306f\u30c0\u30a4\u30a2\u30b9\u30c8\u30ed\u30d5\u30a3\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\u306e\u5275\u59cb\u8005\u5909\u7570\uff08c.-26+2T&gt;C\uff09\u306b\u3088\u308a\u4fdd\u56e0\u8005\u983b\u5ea6\u304c1\u301c2%\u3068\u9ad8\u3044<\/strong>\u3002<\/p>\n\n\n<p>\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u8edf\u9aa8\u7121\u767a\u751f\u75c71A\u578b\uff08<em>TRIP11<\/em>\uff09\u3001\u8edf\u9aa8\u7121\u767a\u751f\u75c72\u578b\uff08<em>COL2A1<\/em>\u3001\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u9855\u6027\uff09\u3001\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\uff08<em>FGFR3<\/em>\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3001\u4f4e\u30db\u30b9\u30d5\u30a1\u30bf\u30fc\u30bc\u75c7\u5468\u7523\u671f\u81f4\u6b7b\u578b\uff08<em>ALPL<\/em>\uff09\u3001\u9aa8\u5f62\u6210\u4e0d\u5168\u75c7II\u578b\u304c\u6319\u304c\u308b\u3002<strong>\u3053\u308c\u3089\u306f\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u3001\u6b21\u5b50\u518d\u767a\u7387\u304c25%\uff08\u6f5c\u6027\uff09\u3068\u307b\u307c0%\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3067\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>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>\u9aa8\u7cfb\u7d71\u75be\u60a3\u306b\u306f\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>A. <strong>\u591a\u304f\u306f\u598a\u5a20\u4e2d\u671f\u4ee5\u964d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u3001\u56db\u80a2\u306e\u8457\u3057\u3044\u77ed\u7e2e\u3068\u72ed\u3044\u80f8\u90ed\u304b\u3089\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/strong>\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. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u8efd\u3044\u75c5\u6c17\u3082\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p>A. \u306f\u3044\u3002<strong>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u6b8b\u3063\u3066\u3044\u308b\u306f\u305f\u3089\u304d\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/strong>\u3082\u3063\u3068\u3082\u8efd\u3044\u578b\u3067\u306f\u3001\u6210\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u95a2\u7bc0\u306e\u75db\u307f\u3067\u6c17\u3065\u304b\u308c\u308b\u7a0b\u5ea6\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u751f\u307e\u308c\u305f\u3042\u3068\u3001\u3069\u306e\u304f\u3089\u3044\u751f\u304d\u3089\u308c\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u3053\u306e\u578b\u3067\u306f\u3001\u80f8\u90ed\u304c\u6975\u7aef\u306b\u72ed\u304f\u80ba\u304c\u80b2\u305f\u306a\u3044\u305f\u3081\u3001\u591a\u304f\u306f\u6b7b\u7523\u3001\u307e\u305f\u306f\u751f\u5f8c\u307e\u3082\u306a\u304f\u4ea1\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>\u3064\u3089\u3044\u304a\u8a71\u3067\u3059\u304c\u3001\u4e8b\u524d\u306b\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u307e\u3068\u904e\u3054\u3059\u6642\u9593\u306e\u6e96\u5099\u304c\u3067\u304d\u307e\u3059\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>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>Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. <em>Hum Mutat<\/em>. 2001;17(3):159-171.<\/li>\n\n\n\n<li>Superti-Furga A, H\u00e4stbacka J, Wilcox WR, et al. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. <em>Nat Genet<\/em>. 1996;12(1):100-102.<\/li>\n\n\n\n<li>Bonaf\u00e9 L, Cormier-Daire V, Hall C, et al. Nosology and classification of genetic skeletal disorders: 2015 revision. <em>Am J Med Genet A<\/em>. 2015;167A(12):2869-2892.<\/li>\n\n\n\n<li>Dwyer E, Hyland J, Modaff P, Pauli RM. Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. <em>Am J Med Genet A<\/em>. 2010;152A(12):3043-3050.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-137016","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\/137016","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/137016\/revisions"}],"predecessor-version":[{"id":137334,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/137016\/revisions\/137334"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=137016"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}