{"id":136644,"date":"2026-09-08T12:22:56","date_gmt":"2026-09-08T03:22:56","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136644"},"modified":"2026-09-08T12:22:56","modified_gmt":"2026-09-08T03:22:56","slug":"ichthyosis-congenital-autosomal-recessive-4b-abca12","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ichthyosis-congenital-autosomal-recessive-4b-abca12\/","title":{"rendered":"\u5148\u5929\u6027\u9b5a\u9c57\u766c \u5e38\u67d3\u8272\u4f53\u6f5c\u60274B\u578b\uff08\u9053\u5316\u5e2b\u69d8\u9b5a\u9c57\u766c\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5148\u5929\u6027\u9b5a\u9c57\u766c \u5e38\u67d3\u8272\u4f53\u6f5c\u60274B\u578b\uff08Ichthyosis, congenital, autosomal recessive 4B\uff09\u306f\u3001<strong>\u9053\u5316\u5e2b\u69d8\u9b5a\u9c57\u766c\uff08harlequin ichthyosis\uff09<\/strong>\u3068\u3082\u547c\u3070\u308c\u3001\u5148\u5929\u6027\u9b5a\u9c57\u766c\u306e\u306a\u304b\u3067\u6700\u3082\u75c7\u72b6\u306e\u91cd\u3044\u578b\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>ABCA12<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u3001\u5168\u8eab\u304c\u539a\u3044\u93a7\u306e\u3088\u3046\u306a\u89d2\u8cea\u306e\u677f\u3067\u304a\u304a\u308f\u308c\u3001\u677f\u3068\u677f\u306e\u3042\u3044\u3060\u306b\u6df1\u3044\u4e80\u88c2\u304c\u5165\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u4ee5\u524d\u306f\u751f\u307e\u308c\u3066\u9593\u3082\u306a\u304f\u4ea1\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u75c5\u6c17\u3067\u3057\u305f\u304c\u3001\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\u3068\u30ec\u30c1\u30ce\u30a4\u30c9\u306e\u5185\u670d\u306b\u3088\u3063\u3066\u3001\u6210\u9577\u3059\u308b\u304a\u5b50\u3055\u307e\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>ABCA12<\/strong> \u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306b\u3001\u306f\u305f\u3089\u304d\u3092\u307b\u3068\u3093\u3069\u5931\u308f\u305b\u308b\u5909\u5316\u304c\u3042\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u3059\u3002ABCA12\u306f\u89d2\u5c64\u3067\u8102\u8cea\u3092\u904b\u3076\u306f\u305f\u3089\u304d\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u3053\u308c\u304c\u5931\u308f\u308c\u308b\u3068\u76ae\u819a\u306e\u30d0\u30ea\u30a2\u304c\u307b\u3068\u3093\u3069\u4f5c\u3089\u308c\u307e\u305b\u3093\u3002\u540c\u3058\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e4A\u578b\u3088\u308a\u3082\u3001\u907a\u4f1d\u5b50\u306e\u306f\u305f\u3089\u304d\u304c\u5927\u304d\u304f\u640d\u306a\u308f\u308c\u305f\u5834\u5408\u306b\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u6642\u304b\u3089\u3001\u5168\u8eab\u304c\u539a\u304f\u786c\u3044\u89d2\u8cea\u306e\u677f\u3067\u304a\u304a\u308f\u308c\u308b<\/li>\n\n\n\n<li>\u677f\u306e\u3042\u3044\u3060\u306b\u6df1\u3044\u4e80\u88c2\u304c\u751f\u3058\u308b<\/li>\n\n\n\n<li>\u307e\u3076\u305f\u3084\u5507\u304c\u5f37\u304f\u5916\u5074\u306b\u3081\u304f\u308c\u3001\u8033\u3084\u9f3b\u306e\u5f62\u304c\u5e73\u305f\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u624b\u8db3\u306e\u6307\u304c\u52d5\u304b\u3057\u306b\u304f\u304f\u306a\u308b\uff08\u62d8\u7e2e\uff09<\/li>\n\n\n\n<li>\u4f53\u6e29\u3092\u4fdd\u3066\u305a\u3001\u6c34\u5206\u3068\u96fb\u89e3\u8cea\u304c\u5931\u308f\u308c\u3084\u3059\u3044<\/li>\n\n\n\n<li>\u76ae\u819a\u304b\u3089\u7d30\u83cc\u304c\u5165\u308a\u3084\u3059\u304f\u3001\u91cd\u3044\u611f\u67d3\u75c7\u3092\u8d77\u3053\u3057\u3084\u3059\u3044<\/li>\n\n\n\n<li>\u547c\u5438\u3084\u54fa\u4e73\u304c\u96e3\u3057\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308b<\/li>\n\n\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">\u65b0\u751f\u5150\u671f\u3092\u4e57\u308a\u3053\u3048\u305f\u3042\u3068\u306f\u30014A\u578b\u306b\u8fd1\u3044\u91cd\u3044\u9b5a\u9c57\u766c\u306e\u72b6\u614b\u304c\u7d9a\u304d\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u76ae\u819a\u306e\u624b\u5165\u308c\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u51fa\u751f\u6642\u306e\u7279\u5fb4\u7684\u306a\u898b\u305f\u76ee\u304b\u3089\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<strong>ABCA12<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3067\u304d\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u3064\u3044\u3066\u8003\u3048\u308b\u3046\u3048\u3067\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\u5ba4\uff08NICU\uff09\u3067\u306e\u5168\u8eab\u7ba1\u7406\uff08\u4fdd\u6e29\u30fb\u8f38\u6db2\u30fb\u611f\u67d3\u5bfe\u7b56\uff09<\/li>\n\n\n\n<li>\u30ec\u30c1\u30ce\u30a4\u30c9\uff08\u30d3\u30bf\u30df\u30f3A\u8a98\u5c0e\u4f53\uff09\u306e\u5185\u670d\u3092\u65e9\u3044\u6642\u671f\u304b\u3089\u691c\u8a0e\u3059\u308b<\/li>\n\n\n\n<li>\u4fdd\u6e7f\u5264\u3068\u89d2\u8cea\u3092\u3084\u308f\u3089\u3052\u308b\u5916\u7528\u85ac\u306b\u3088\u308b\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u76ae\u819a\u306e\u624b\u5165\u308c<\/li>\n\n\n\n<li>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u306a\u3069\u3001\u8907\u6570\u306e\u79d1\u306b\u3088\u308b\u652f\u63f4<\/li>\n\n\n<\/ul>\n\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\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>ABCA12<\/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\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\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>ABCA12<\/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\n<h3 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\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>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\n<p class=\"wp-block-paragraph\">\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\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u9053\u5316\u5e2b\u69d8\u9b5a\u9c57\u766c\u306f <strong>ABCA12<\/strong> \u306e\u4e21\u30a2\u30ec\u30eb\u306b\u304a\u3051\u308b\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u3001\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u5909\u7570\u306a\u3069\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u3002ABCA12\u86cb\u767d\u304c\u307b\u307c\u5b8c\u5168\u306b\u5931\u308f\u308c\u308b\u305f\u3081\u3001\u5c64\u677f\u9846\u7c92\u306b\u3088\u308b\u30b0\u30eb\u30b3\u30b7\u30eb\u30bb\u30e9\u30df\u30c9\u8f38\u9001\u304c\u505c\u6b62\u3057\u3001\u89d2\u5c64\u7d30\u80de\u9593\u8102\u8cea\u30e9\u30e1\u30e9\u304c\u5f62\u6210\u3055\u308c\u306a\u3044\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u96fb\u5b50\u9855\u5fae\u93e1\u3067\u306f\u5c64\u677f\u9846\u7c92\u306e\u7570\u5e38\u3068\u3001\u89d2\u5c64\u3078\u306e\u8102\u8cea\u5206\u6ccc\u306e\u6b20\u5982\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3002\u51fa\u751f\u6642\u306e\u30d0\u30ea\u30a2\u7834\u7dbb\u306b\u3088\u308a\u3001\u7d4c\u8868\u76ae\u6c34\u5206\u55aa\u5931\u306e\u8457\u660e\u306a\u5897\u52a0\u3001\u96fb\u89e3\u8cea\u7570\u5e38\u3001\u4f53\u6e29\u8abf\u7bc0\u969c\u5bb3\u3001\u6557\u8840\u75c7\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5168\u8eab\u30ec\u30c1\u30ce\u30a4\u30c9\uff08\u30a2\u30b7\u30c8\u30ec\u30c1\u30f3\u7b49\uff09\u306e\u65e9\u671f\u5c0e\u5165\u3068\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u751f\u5b58\u7387\u306f\u6539\u5584\u3057\u3066\u304a\u308a\u3001\u9577\u671f\u751f\u5b58\u4f8b\u3067\u306f\u7d05\u76ae\u75c7\u3092\u4f34\u3046\u91cd\u75c7\u9b5a\u9c57\u766c\u306e\u7d4c\u904e\u3092\u305f\u3069\u308b\u3002\u8cac\u4efb\u907a\u4f1d\u5b50\u304c\u540c\u4e00\u3067\u3042\u308bARCI4A\u3068\u306f\u3001\u5909\u7570\u306e\u91cd\u75c7\u5ea6\u306b\u3088\u308b\u8868\u73fe\u578b\u306e\u9023\u7d9a\u4f53\u3068\u3057\u3066\u7406\u89e3\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3053\u306e\u75c5\u6c17\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3067\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3042\u308b\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f4\u5206\u306e1\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u691c\u67fb\u3067\u8abf\u3079\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u3067\u304d\u307e\u3059\u3002\u539f\u56e0\u3068\u306a\u308b <strong>ABCA12<\/strong> \u907a\u4f1d\u5b50\u3092\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u3001\u3054\u592b\u5a66\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u4e8b\u524d\u306b\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u751f\u307e\u308c\u305f\u3042\u3068\u3001\u80b2\u3064\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u4ee5\u524d\u306f\u751f\u307e\u308c\u3066\u9593\u3082\u306a\u304f\u4ea1\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u75c5\u6c17\u3067\u3057\u305f\u304c\u3001\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\u3068\u30ec\u30c1\u30ce\u30a4\u30c9\u306e\u5185\u670d\u306b\u3088\u3063\u3066\u3001\u6210\u9577\u3059\u308b\u304a\u5b50\u3055\u307e\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u751f\u307e\u308c\u3066\u3059\u3050\u306e\u5168\u8eab\u7ba1\u7406\u304c\u7279\u306b\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. 4A\u578b\u3068\u306f\u4f55\u304c\u9055\u3046\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306f\u540c\u3058 <strong>ABCA12<\/strong> \u3067\u3059\u3002\u907a\u4f1d\u5b50\u306e\u306f\u305f\u3089\u304d\u304c\u307b\u3068\u3093\u3069\u5931\u308f\u308c\u308b\u5909\u5316\u3067\u306f4B\u578b\uff08\u9053\u5316\u5e2b\u69d8\u9b5a\u9c57\u766c\uff09\u306b\u3001\u306f\u305f\u3089\u304d\u304c\u4e00\u90e8\u6b8b\u308b\u5909\u5316\u3067\u306f4A\u578b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u598a\u5a20\u306b\u5099\u3048\u3066\u4f55\u304b\u3067\u304d\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u3054\u592b\u5a66\u306e\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u3066\u304a\u304f\u3053\u3068\u3067\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u3042\u308f\u305b\u3066\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Kelsell DP, Norgett EE, Unsworth H, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. <em>Am J Hum Genet<\/em>. 2005;76(5):794-803.<\/li>\n\n\n\n<li>Akiyama M, Sugiyama-Nakagiri Y, Sakai K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. <em>J Clin Invest<\/em>. 2005;115(7):1777-1784.<\/li>\n\n\n\n<li>Rajpopat S, Moss C, Mellerio J, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. <em>Arch Dermatol<\/em>. 2011;147(6):681-686.<\/li>\n\n\n\n<li>Richard G, Ringpfeil F. Ichthyoses. In: <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle.<\/li>\n\n\n\n<li>OMIM #242500 Ichthyosis, congenital, autosomal recessive 4B (harlequin)<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136644","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\/136644","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136644\/revisions"}],"predecessor-version":[{"id":136654,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136644\/revisions\/136654"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136644"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}