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class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u8d64\u3061\u3083\u3093\u306e\u5f37\u3044\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3068\u3001\u65e9\u304f\u304b\u3089\u898b\u3089\u308c\u308b\u80cc\u9aa8\u306e\u66f2\u304c\u308a<\/strong>\u306b\u3001\u95a2\u7bc0\u306e\u3086\u308b\u3055\u3084\u76ae\u819a\u306e\u69d8\u5b50\u304c\u52a0\u308f\u308b\u3068\u3001\u3053\u306e\u75c5\u6c17\u304c\u7591\u308f\u308c\u307e\u3059\u3002\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u306a\u304f\u3001<strong>\u591a\u304f\u306f\u751f\u307e\u308c\u3066\u304b\u3089\u4e73\u5e7c\u5150\u671f\u306b\u6c17\u3065\u304b\u308c\u307e\u3059<\/strong>\u3002\u7b4b\u8089\u306e\u75c5\u6c17\u3068\u898b\u5206\u3051\u308b\u306e\u304c\u96e3\u3057\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">PLOD1 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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>\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u3001\u5408\u4f75\u75c7\u3092\u9632\u3050\u305f\u3081\u306e\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<strong>\u6574\u5f62\u5916\u79d1\u30fb\u773c\u79d1\u30fb\u5faa\u74b0\u5668\u79d1\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u306a\u3069\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3057\u3066\u3001\u9577\u304f\u898b\u5b88\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5<\/strong>\uff1a\u7b4b\u529b\u3092\u3064\u3051\u3066\u95a2\u7bc0\u3092\u5b89\u5b9a\u3055\u305b\u3001\u904b\u52d5\u306e\u767a\u9054\u3092\u652f\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u80cc\u9aa8\u306e\u66f2\u304c\u308a\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u88c5\u5177\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u3001\u66f2\u304c\u308a\u304c\u5f37\u304f\u306a\u3063\u305f\u5834\u5408\u306f\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002\u624b\u8853\u3067\u306f\u3001\u7d44\u7e54\u3084\u8840\u7ba1\u306e\u3082\u308d\u3055\u306b\u5341\u5206\u306a\u914d\u616e\u304c\u5fc5\u8981\u3067\u3059<\/li>\n\n\n\n<li><strong>\u76ee\u306e\u5b9a\u671f\u691c\u67fb<\/strong>\uff1a\u5f37\u819c\u306e\u5f31\u3055\u3084\u8fd1\u8996\u306a\u3069\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u76ee\u3092\u3076\u3064\u3051\u308b\u3088\u3046\u306a\u6fc0\u3057\u3044\u904b\u52d5\u306f\u907f\u3051\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8840\u7ba1\u3068\u8840\u5727\u306e\u78ba\u8a8d<\/strong>\uff1a\u753b\u50cf\u691c\u67fb\u3067\u52d5\u8108\u306e\u72b6\u614b\u3092\u8abf\u3079\u3001\u8840\u5727\u3092\u9069\u5207\u306b\u4fdd\u3061\u307e\u3059<\/li>\n\n\n\n<li><strong>\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/strong>\uff1a\u3051\u304c\u306e\u4e88\u9632\u3084\u50b7\u306e\u4e01\u5be7\u306a\u624b\u5f53\u3066\u3092\u5fc3\u304c\u3051\u307e\u3059\u3002\u3054\u672c\u4eba\u304c\u5c06\u6765\u598a\u5a20\u30fb\u51fa\u7523\u3092\u8003\u3048\u308b\u3068\u304d\u306f\u3001\u4e8b\u524d\u306b\u76f8\u8ac7\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4\u3068\u3001\u4fdd\u80b2\u30fb\u6559\u80b2\u306e\u5834\u3067\u306e\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>PLOD1<\/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>PLOD1<\/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<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>PLOD1<\/strong> \u306f\u30ea\u30b7\u30eb\u30d2\u30c9\u30ed\u30ad\u30b7\u30e9\u30fc\u30bc1\uff08LH1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3001<strong>\u30b3\u30e9\u30fc\u30b2\u30f3\u4e09\u91cd\u3089\u305b\u3093\u9818\u57df\u306e\u30ea\u30b8\u30f3\u6b8b\u57fa\u306e\u30d2\u30c9\u30ed\u30ad\u30b7\u30eb\u5316<\/strong>\u3092\u62c5\u3046\u3002\u6b20\u640d\u3059\u308b\u3068\u30d2\u30c9\u30ed\u30ad\u30b7\u30ea\u30b8\u30f3\u304c\u6e1b\u5c11\u3057\u3001<strong>\u30d2\u30c9\u30ed\u30ad\u30b7\u30ea\u30b8\u30f3\u7531\u6765\u306e\u5206\u5b50\u9593\u67b6\u6a4b\uff08\u30d2\u30c9\u30ed\u30ad\u30b7\u30ea\u30b7\u30eb\u30d4\u30ea\u30b8\u30ce\u30ea\u30f3\uff09\u304c\u4f4e\u4e0b<\/strong>\u3057\u3066\u3001\u30b3\u30e9\u30fc\u30b2\u30f3\u7dda\u7dad\u306e\u5f15\u3063\u5f35\u308a\u5f37\u5ea6\u304c\u640d\u306a\u308f\u308c\u308b\u3002\u672c\u9175\u7d20\u306e\u88dc\u56e0\u5b50\u306f\u30a2\u30b9\u30b3\u30eb\u30d3\u30f3\u9178\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>2017\u5e74\u56fd\u969b\u5206\u985e\u3067\u306f\u3001\u810a\u67f1\u5f8c\u5074\u5f2f\u578b\uff08kEDS\uff09\u306f kEDS-PLOD1 \u3068 kEDS-FKBP14 \u306b\u5206\u3051\u3089\u308c\u308b\u3002<\/strong>\u5927\u57fa\u6e96\u306f\u5148\u5929\u6027\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u5148\u5929\u6027\u307e\u305f\u306f\u65e9\u671f\u767a\u75c7\u306e\u9032\u884c\u6027\u5f8c\u5074\u5f2f\u3001\u95a2\u7bc0\u5f1b\u7de9\uff08\u8131\u81fc\u30fb\u4e9c\u8131\u81fc\uff09\u3067\u3042\u308b\u3002<strong>kEDS-PLOD1 \u306b\u7279\u7570\u7684\u306a\u691c\u67fb\u6240\u898b\u3068\u3057\u3066\u3001\u5c3f\u4e2d\u30ea\u30b7\u30eb\u30d4\u30ea\u30b8\u30ce\u30ea\u30f3\uff0f\u30d2\u30c9\u30ed\u30ad\u30b7\u30ea\u30b7\u30eb\u30d4\u30ea\u30b8\u30ce\u30ea\u30f3\u6bd4\uff08LP\/HP\u6bd4\uff09\u306e\u8457\u660e\u306a\u4e0a\u6607<\/strong>\u304c\u3042\u308a\u3001HPLC \u3067\u6e2c\u5b9a\u3067\u304d\u308b\u3002<strong>\u907a\u4f1d\u5b50\u30ec\u30d9\u30eb\u3067\u306f\u3001Alu \u914d\u5217\u9593\u306e\u7d44\u63db\u3048\u306b\u3088\u308b\u30a8\u30af\u30bd\u30f310\u301c16\u306e\u91cd\u8907\u304c\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u308b<\/strong>\u305f\u3081\u3001\u914d\u5217\u89e3\u6790\u306b\u52a0\u3048\u3066\u30b3\u30d4\u30fc\u6570\u306e\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002kEDS-FKBP14 \u3067\u306f LP\/HP \u6bd4\u306f\u6b63\u5e38\u3067\u3001\u611f\u97f3\u96e3\u8074\u3084\u30df\u30aa\u30d1\u30c1\u30fc\u304c\u76ee\u7acb\u3064\u70b9\u3067\u533a\u5225\u3055\u308c\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u7b4b\u62d8\u7e2e\u578b\uff08<em>CHST14<\/em>\u3001<em>DSE<\/em>\uff09\u3001\u89d2\u819c\u8106\u5f31\u75c7\u5019\u7fa4\uff08<em>ZNF469<\/em>\u3001<em>PRDM5<\/em>\uff09\u3001\u8840\u7ba1\u578b\uff08<em>COL3A1<\/em>\u3001\u9855\u6027\uff09\u3001\u30de\u30eb\u30d5\u30a1\u30f3\u75c7\u5019\u7fa4\uff08<em>FBN1<\/em>\u3001\u9855\u6027\uff09\u3001\u3055\u3089\u306b\u5148\u5929\u6027\u30df\u30aa\u30d1\u30c1\u30fc\u3084\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u306a\u3069\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3092\u304d\u305f\u3059\u75be\u60a3\u304c\u6319\u304c\u308b\u3002<strong>\u6b74\u53f2\u7684\u306b\u300cVI\u578b\u300d\u3068\u3055\u308c\u305f\u75c7\u4f8b\u306e\u3046\u3061 LH \u6d3b\u6027\u304c\u6b63\u5e38\u306a\u3082\u306e\uff08\u65e7VIB\u578b\uff09\u306e\u4e00\u90e8\u306f\u3001\u306e\u3061\u306b\u5225\u907a\u4f1d\u5b50\u306b\u3088\u308b\u5225\u75be\u60a3\u3068\u5224\u660e\u3057\u3066\u3044\u308b\u3002\u305d\u306e\u305f\u3081\u3001\u907a\u4f1d\u5f62\u5f0f\u306e\u78ba\u8a8d\u3068\u518d\u767a\u7387\u306e\u8aac\u660e\u306b\u306f\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u6b20\u304b\u305b\u306a\u3044\u3002<\/strong>\u52d5\u8108\u7834\u88c2\u306f\u983b\u5ea6\u3053\u305d\u4f4e\u3044\u304c\u751f\u547d\u4e88\u5f8c\u306b\u95a2\u308f\u308b\u305f\u3081\u3001\u8a3a\u65ad\u5f8c\u306f\u8840\u7ba1\u8a55\u4fa1\u3068\u8840\u5727\u7ba1\u7406\u304c\u63a8\u5968\u3055\u308c\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>\u30a8\u30fc\u30e9\u30b9\u30fb\u30c0\u30f3\u30ed\u30b9\u75c7\u5019\u7fa4\u306b\u306f\u9855\u6027\u907a\u4f1d\u306e\u578b\u3082\u591a\u304f\u3001\u578b\u306b\u3088\u3063\u3066\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u6b63\u3057\u3044\u898b\u901a\u3057\u3092\u304a\u4f1d\u3048\u3059\u308b\u305f\u3081\u306b\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>\u3053\u306e\u578b\u304c\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002\u591a\u304f\u306f\u3001\u751f\u307e\u308c\u305f\u3042\u3068\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u80cc\u9aa8\u306e\u66f2\u304c\u308a\u304b\u3089\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\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. \u307b\u304b\u306e\u578b\u306e\u30a8\u30fc\u30e9\u30b9\u30fb\u30c0\u30f3\u30ed\u30b9\u75c7\u5019\u7fa4\u3068\u306f\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u578b\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u3053\u308d\u304b\u3089\u306e\u5f37\u3044\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3068\u3001\u65e9\u304f\u304b\u3089\u5f37\u304f\u306a\u308b\u80cc\u9aa8\u306e\u66f2\u304c\u308a\u304c\u76ee\u7acb\u3064\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002<\/strong>\u95a2\u7bc0\u3084\u76ae\u819a\u306e\u75c7\u72b6\u304c\u4e2d\u5fc3\u306e\u578b\u3001\u8840\u7ba1\u306e\u75c7\u72b6\u304c\u4e2d\u5fc3\u306e\u578b\u306a\u3069\u3001\u578b\u3054\u3068\u306b\u539f\u56e0\u907a\u4f1d\u5b50\u30fb\u907a\u4f1d\u5f62\u5f0f\u30fb\u6ce8\u610f\u3059\u3079\u304d\u5408\u4f75\u75c7\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u65e5\u5e38\u751f\u6d3b\u3067\u3069\u3093\u306a\u3053\u3068\u306b\u6c17\u3092\u3064\u3051\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u95a2\u7bc0\u3084\u76ee\u3001\u8840\u7ba1\u306b\u5f37\u3044\u885d\u6483\u304c\u52a0\u308f\u3089\u306a\u3044\u3088\u3046\u306b\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong>\u3076\u3064\u304b\u308a\u5408\u3046\u3088\u3046\u306a\u6fc0\u3057\u3044\u904b\u52d5\u306f\u63a7\u3048\u3001\u7121\u7406\u306e\u306a\u3044\u7bc4\u56f2\u3067\u4f53\u3092\u52d5\u304b\u3057\u3066\u7b4b\u529b\u3092\u4fdd\u3061\u307e\u3059\u3002\u6025\u306a\u5f37\u3044\u75db\u307f\u304c\u3042\u308b\u3068\u304d\u3084\u3001\u76ee\u3092\u3051\u304c\u3057\u305f\u3068\u304d\u306f\u3001\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u307e\u306b\u5408\u3063\u305f\u904e\u3054\u3057\u65b9\u3092\u898b\u3064\u3051\u3066\u3044\u304d\u307e\u3057\u3087\u3046\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>Yeowell HN, Steinmann B. PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. <em>Am J Med Genet C Semin Med Genet<\/em>. 2017;175(1):8-26.<\/li>\n\n\n\n<li>Brady AF, Demirdas S, Fournel-Gigleux S, et al. The Ehlers-Danlos syndromes, rare types. <em>Am J Med Genet C Semin Med Genet<\/em>. 2017;175(1):70-115.<\/li>\n\n\n\n<li>Rohrbach M, Vandersteen A, Yi\u015f U, et al. Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. <em>Orphanet J Rare Dis<\/em>. 2011;6:46.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147944","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\/147944","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\/147944\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147944"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}