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class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u96e3\u6cbb\u6027\u306e\u3051\u3044\u308c\u3093<\/strong>\uff08\u751f\u5f8c\u307e\u3082\u306a\u304f\u304b\u3089\u3002\u70b9\u982d\u3066\u3093\u304b\u3093\u306e\u5f62\u3092\u3068\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff09<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c<\/strong><\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u306e\u7570\u5e38\uff08\u4f4e\u4e0b\u307e\u305f\u306f\u786c\u76f4\uff09<\/li>\n\n\n\n<li><strong>\u5916\u6027\u5668\u306e\u4f4e\u5f62\u6210<\/strong>\uff08\u7537\u5150\uff09\uff1a\u5c0f\u9670\u830e\u3001\u505c\u7559\u7cbe\u5de3\u306a\u3069<\/li>\n\n\n\n<li>\u4f53\u6e29\u8abf\u7bc0\u306e\u7570\u5e38<\/li>\n\n\n\n<li>\u8133\u6881\u306e\u6b20\u640d\u3084\u4f4e\u5f62\u6210<\/li>\n\n\n\n<li>MRI\u3067\u306e<strong>\u6ed1\u8133\u75c7\uff08\u8133\u306e\u3057\u308f\u304c\u6d45\u3044\uff09<\/strong><\/li>\n\n\n\n<li>\u4e88\u5f8c\u306f\u4e0d\u826f\u3067\u3001\u4e73\u5e7c\u5150\u671f\u306b\u547d\u306b\u304b\u304b\u308f\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u982d\u90e8MRI\u3067\u6ed1\u8133\u75c7\u3068\u8133\u6881\u306e\u7570\u5e38\u3092\u78ba\u8a8d\u3057\u3001\u7537\u5150\u3067\u5916\u6027\u5668\u306e\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304b\u3089\u7591\u3044\u307e\u3059\u3002<strong>ARX<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<strong>ARX<\/strong> \u306e\u5909\u5316\u306f\u3001\u3053\u306e\u75c5\u6c17\u306e\u307b\u304b\u3001\u70b9\u982d\u3066\u3093\u304b\u3093\u3001X\u9023\u9396<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306a\u3069<strong>\u5e45\u5e83\u3044\u75c5\u6c17\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul 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<strong>ARX<\/strong>\uff08Xp21.3\uff09\u306e\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u306b\u3088\u308b\u3002ARX\u306faristaless\u95a2\u9023\u30db\u30e1\u30aa\u30dc\u30c3\u30af\u30b9\u8ee2\u5199\u56e0\u5b50\u3067\u3001GABA\u4f5c\u52d5\u6027\u30a4\u30f3\u30bf\u30fc\u30cb\u30e5\u30fc\u30ed\u30f3\u306e\u63a5\u7dda\u65b9\u5411\u79fb\u52d5\u3068\u5206\u5316\u3001\u304a\u3088\u3073\u7cbe\u5de3\u306e\u767a\u751f\u306b\u5fc5\u9808\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p><strong>ARX\u95a2\u9023\u75be\u60a3\u306f\u5909\u7570\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u8868\u73fe\u578b\u304c\u5927\u304d\u304f\u7570\u306a\u308b<\/strong>\u3002\u6a5f\u80fd\u55aa\u5931\u578b\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\uff09\u306fXLAG\u3092\u3001\u30dd\u30ea\u30a2\u30e9\u30cb\u30f3\u9396\u306e\u4f38\u9577\u306f\u70b9\u982d\u3066\u3093\u304b\u3093\uff08West\u75c7\u5019\u7fa4\uff09\u30fbPartington\u75c7\u5019\u7fa4\u30fb\u975e\u75c7\u5019\u6027X\u9023\u9396<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u751f\u3058\u308b\u3002\u540c\u4e00\u907a\u4f1d\u5b50\u3067\u3053\u308c\u307b\u3069\u5e83\u3044\u8868\u73fe\u578b\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3092\u793a\u3059\u4f8b\u306f\u5c11\u306a\u3044\u3002<\/p>\n\n\n\n<p>XLAG\u306e\u6ed1\u8133\u75c7\u306f<strong>\u5f8c\u982d\u90e8\u512a\u4f4d\u3067\u76ae\u8cea\u304c3\u5c64\u69cb\u9020\u3092\u3068\u308b<\/strong>\u70b9\u3067\u3001LIS1\uff08PAFAH1B1\uff09\u95a2\u9023\u6ed1\u8133\u75c7\uff08\u5f8c\u982d\u90e8\u512a\u4f4d\u30fb4\u5c64\uff09\u3084DCX\u95a2\u9023\uff08\u524d\u982d\u90e8\u512a\u4f4d\uff09\u3068\u533a\u5225\u3055\u308c\u308b\u3002\u30a4\u30f3\u30bf\u30fc\u30cb\u30e5\u30fc\u30ed\u30f3\u306e\u6b20\u640d\u304c\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u306e\u57fa\u76e4\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u5973\u6027\u30d8\u30c6\u30ed\u63a5\u5408\u4f53\u3067\u306f\u3001X\u67d3\u8272\u4f53\u4e0d\u6d3b\u5316\u306b\u3088\u308a\u8868\u73fe\u578b\u304c\u8efd\u304f\u3001<strong>\u8133\u6881\u6b20\u640d\u306e\u307f<\/strong>\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u5150\u304cXLAG\u3068\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\u3001\u6bcd\u306e\u982d\u90e8MRI\u3067\u8133\u6881\u6b20\u640d\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u4fdd\u56e0\u8005\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\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. \u3051\u3044\u308c\u3093\u306f\u85ac\u3067\u6291\u3048\u3089\u308c\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u6cbb\u7642\u306b\u62b5\u6297\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u75c5\u6c17\u3067\u3059\u3002\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u3001\u767a\u4f5c\u3092\u6e1b\u3089\u3059\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u5973\u306e\u5b50\u3067\u3082\u767a\u75c7\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u4fdd\u56e0\u8005\u306e\u5973\u306e\u5b50\u3067\u306f\u3001\u8133\u6881\u306e\u6b20\u640d\u306a\u3069\u306e\u8efd\u3044\u6240\u898b\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u7537\u306e\u5b50\u3067\u91cd\u3044\u75c7\u72b6\u304c\u51fa\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u5225\u306e\u75c5\u6c17\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u306f\u3044\u3002<strong>ARX<\/strong> \u306e\u5909\u5316\u306f\u3001\u70b9\u982d\u3066\u3093\u304b\u3093\u3084X\u9023\u9396<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306a\u3069\u3001\u5e45\u5e83\u3044\u75c5\u6c17\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u5909\u5316\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6bcd\u89aa\u3082\u691c\u67fb\u3092\u53d7\u3051\u305f\u307b\u3046\u304c\u3088\u3044\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u4fdd\u56e0\u8005\u304b\u3069\u3046\u304b\u3092\u77e5\u308b\u3053\u3068\u306f\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u3064\u3044\u3066\u8003\u3048\u308b\u3046\u3048\u3067\u91cd\u8981\u3067\u3059\u3002\u6bcd\u89aa\u306e\u982d\u90e8MRI\u3067\u8133\u6881\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3082\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u51fa\u751f\u524d\u306b\u8abf\u3079\u3089\u308c\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u3054\u5bb6\u65cf\u306e\u5909\u5316\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u3001\u6b21\u306e\u598a\u5a20\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\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\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Kitamura K, Yanazawa M, Sugiyama N, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. <em>Nat Genet<\/em>. 2002;32(3):359-369.<\/li>\n\n\n\n<li>Sherr EH. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. <em>Curr Opin Pediatr<\/em>. 2003;15(6):567-571.<\/li>\n\n\n\n<li>Kato M, Das S, Petras K, et al. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. <em>Hum Mutat<\/em>. 2004;23(2):147-159.<\/li>\n\n\n\n<li>Shoubridge C, Fullston T, G\u00e9cz J. ARX spectrum disorders: making inroads into the molecular pathology. <em>Hum Mutat<\/em>. 2010;31(8):889-900.<\/li>\n\n\n\n<li>OMIM #300215 Lissencephaly, X-linked, 2<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136696","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\/136696","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\/136696\/revisions"}],"predecessor-version":[{"id":137066,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136696\/revisions\/137066"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136696"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}