{"id":33561,"date":"2022-07-11T16:40:09","date_gmt":"2022-07-11T07:40:09","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33561"},"modified":"2026-04-28T13:45:44","modified_gmt":"2026-04-28T04:45:44","slug":"andermann-syndrome","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/andermann-syndrome\/","title":{"rendered":"\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4\uff08HMSN\/ACC\uff09\u306f\u3001SLC12A6\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u795e\u7d4c\u306e\u50cd\u304d\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u3001\u7b4b\u529b\u3084\u611f\u899a\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u307b\u304b\u3001\u8133\u306e\u767a\u9054\u306b\u3082\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u7279\u5fb4\u3001\u691c\u67fb\u65b9\u6cd5\u3001\u6cbb\u7642\u3084\u30b5\u30dd\u30fc\u30c8\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>SLC12A6\uff5cAndermann Syndrome<\/p>\n\n\n\n<p><sup>HMSN\/ACC; SLC12A6-related Hereditary motor and sensory neuropathy with agenesis of the corpus callosum<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4\uff08Andermann syndrome\uff09\u306f\u3001\u300cSLC12A6\u907a\u4f1d\u5b50\u306b\u95a2\u9023\u3057\u305f\u907a\u4f1d\u6027\u904b\u52d5\u611f\u899a\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\u3068\u8133\u6881\u6b20\u640d\u75c7\u300d\uff08hereditary motor and sensory neuropathy with agenesis of the corpus callosum\uff1a\u7565\u79f0HMSN\/ACC\uff09\u3068\u3082\u547c\u3070\u308c\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u9032\u884c\u6027\u3067\u91cd\u5ea6\u306a\u795e\u7d4c\u969c\u5bb3\uff08\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\uff09\u3067\u3042\u308a\u3001\u904b\u52d5\u6a5f\u80fd\uff08\u7b4b\u529b\u3084\u52d5\u304d\uff09\u3084\u611f\u899a\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3001\u767a\u9054\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u3055\u3089\u306b\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff1a\u5de6\u53f3\u306e\u8133\u534a\u7403\u3092\u3064\u306a\u3050\u795e\u7d4c\u7dda\u7dad\u306e\u675f\uff09\u304c\u5b8c\u5168\u307e\u305f\u306f\u90e8\u5206\u7684\u306b\u6b20\u3051\u3066\u3044\u308b\u72b6\u614b\uff08\u8133\u6881\u6b20\u640d\uff09\u3092\u4f34\u3044\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u306f\u3001\u300cSLC12A6\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u7570\u5e38\uff08\u5909\u7570\uff09\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306f\u795e\u7d4c\u7d30\u80de\u306e\u6a5f\u80fd\u3084\u7d30\u80de\u306e\u6c34\u5206\u91cf\u306e\u8abf\u7bc0\u306b\u91cd\u8981\u306a\u300c\u30ab\u30ea\u30a6\u30e0-\u5869\u5316\u7269\u5171\u8f38\u9001\u4f533\u578b\u300d\uff08potassium-chloride cotransporter 3\uff1a\u7565\u79f0KCC3\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u3063\u3066\u3044\u307e\u3059\u3002KCC3\u304c\u50cd\u304b\u306a\u3044\u3053\u3068\u3067\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4\u306f\u6700\u521d\u306b\u30ab\u30ca\u30c0\u306e\u30b1\u30d9\u30c3\u30af\u5dde\u3001\u7279\u306b\u30b7\u30e3\u30eb\u30eb\u30dc\u30a2\u5730\u65b9\u3068\u30b5\u30b0\u30cd\u30fb\u30e9\u30c3\u30af\uff1d\u30b5\u30f3\uff1d\u30b8\u30e3\u30f3\u5730\u65b9\u306e\u30d5\u30e9\u30f3\u30b9\u7cfb\u30ab\u30ca\u30c0\u4eba\u306e\u9593\u3067\u767a\u898b\u3055\u308c\u307e\u3057\u305f\u3002\u3053\u306e\u5730\u57df\u3067\u60a3\u8005\u304c\u591a\u3044\u306e\u306f\u3001\u7279\u5b9a\u306e\u96c6\u56e3\u304c\u7956\u5148\u304b\u3089\u540c\u3058\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3067\u3044\u308b\u305f\u3081\uff08\u5275\u59cb\u8005\u52b9\u679c\uff1afounder effect\uff09\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5f53\u521d\u306f\u3053\u306e\u5730\u57df\u306b\u9650\u5b9a\u3055\u308c\u305f\u75be\u60a3\u3068\u601d\u308f\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u305d\u306e\u5f8c\u3001\u30ce\u30eb\u30a6\u30a7\u30fc\u3092\u542b\u3080\u4ed6\u306e\u56fd\u3005\u304b\u3089\u3082\u60a3\u8005\u304c\u5831\u544a\u3055\u308c\u3001\u73fe\u5728\u3067\u306f\u4e16\u754c\u7684\u306b\u5206\u5e03\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4\u306f\u901a\u5e38\u3001\u300c\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u300d\uff08autosomal recessive inheritance\uff09\u3068\u3044\u3046\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u53d7\u3051\u7d99\u30502\u3064\u306eSLC12A6\u907a\u4f1d\u5b50\u306b\u7570\u5e38\uff08\u75c5\u7684\u5909\u7570\uff09\u304c\u3042\u308b\u5834\u5408\u306b\u306e\u307f\u767a\u75c7\u3059\u308b\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3067\u3059\u3002\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u3067\u306fKCC3\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6a5f\u80fd\u304c\u5b8c\u5168\u306b\u5931\u308f\u308c\u308b\u307b\u3069\u306e\u6df1\u523b\u306a\u907a\u4f1d\u5b50\u5909\u7570\u304c\u8d77\u3053\u3063\u3066\u3044\u307e\u3059\u3002\u7247\u65b9\u3060\u3051\u304c\u7570\u5e38\u306a\u907a\u4f1d\u5b50\u3092\u6301\u3064\u4eba\uff08\u4fdd\u56e0\u8005\uff09\u306b\u306f\u75c7\u72b6\u304c\u73fe\u308c\u307e\u305b\u3093\u304c\u3001\u6700\u8fd1\u3067\u306f\u4f8b\u5916\u7684\u306b\u30011\u3064\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308c\u3070\u767a\u75c7\u3059\u308b\u8efd\u75c7\u30bf\u30a4\u30d7\u306e\u60a3\u8005\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u304c\u5f93\u6765\u3088\u308a\u5e83\u3044\u7bc4\u56f2\u306b\u308f\u305f\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4\u306e\u5178\u578b\u7684\u306a\u75c7\u72b6\u306f\u4e73\u5150\u671f\u304b\u3089\u5e7c\u5150\u671f\u306b\u59cb\u307e\u308a\u3001\u624b\u8db3\u306e\u672b\u7aef\u306b\u3042\u308b\u795e\u7d4c\uff08\u672b\u68a2\u795e\u7d4c\uff09\u306e\u969c\u5bb3\u306b\u3088\u3063\u3066\u7b4b\u529b\u4f4e\u4e0b\u3001\u611f\u899a\u306e\u920d\u3055\u3001\u904b\u52d5\u80fd\u529b\u306e\u4f4e\u4e0b\u304c\u5f90\u3005\u306b\u9032\u884c\u3057\u307e\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u304c\u767a\u9054\u306e\u9045\u308c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8133\u6881\u306e\u6b20\u640d\u3092\u4f34\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u6b69\u304d\u65b9\u306e\u7570\u5e38\u3001\u8171\u53cd\u5c04\u306e\u4f4e\u4e0b\uff08\u811a\u3084\u8155\u306e\u53cd\u5c04\u304c\u5f31\u307e\u308b\u3053\u3068\uff09\u3001\u8db3\u306e\u5909\u5f62\uff08\u9ad8\u3044\u571f\u8e0f\u307e\u305a\u3084\u6307\u306e\u5909\u5f62\u306a\u3069\uff09\u3001\u904b\u52d5\u306e\u8abf\u6574\u304c\u56f0\u96e3\u306b\u306a\u308b\u5931\u8abf\uff08\u3057\u3063\u3061\u3087\u3046\uff09\u75c7\u72b6\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u75c7\u72b6\u306e\u7a0b\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u540c\u3058\u5bb6\u65cf\u5185\u3067\u3082\u91cd\u75c7\u5ea6\u304c\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6700\u8fd1\u5831\u544a\u3055\u308c\u305f\u8efd\u75c7\u30bf\u30a4\u30d7\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u8133\u6881\u306e\u7570\u5e38\u304c\u306a\u304f\u3001\u6210\u4eba\u5f8c\u306b\u8efd\u3044\u75c7\u72b6\u304c\u73fe\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\u3001\u307e\u305a\u60a3\u8005\u306e\u75c7\u72b6\u3084\u81e8\u5e8a\u6240\u898b\uff08\u533b\u5e2b\u306e\u8a3a\u5bdf\u3067\u78ba\u8a8d\u3055\u308c\u308b\u7279\u5fb4\uff09\u3092\u78ba\u8a8d\u3057\u305f\u3046\u3048\u3067\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u3044\u3001SLC12A6\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u795e\u7d4c\u5b66\u7684\u306a\u691c\u67fb\u3001\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb\u3001\u7b4b\u96fb\u56f3\u691c\u67fb\uff08electromyography\uff1a\u7565\u79f0EMG\uff09\u306a\u3069\u3092\u884c\u3044\u3001\u795e\u7d4c\u969c\u5bb3\u306e\u30bf\u30a4\u30d7\u3092\u5224\u5b9a\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u8133\u306e\u72b6\u614b\u3092\u8abf\u3079\u308b\u305f\u3081\u306bMRI\uff08\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u691c\u67fb\uff09\u3067\u8133\u6881\u306e\u767a\u9054\u72b6\u6cc1\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u4e3b\u306b\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08whole-exome sequencing\uff1a\u7565\u79f0WES\uff09\u307e\u305f\u306f\u76ee\u7684\u306e\u907a\u4f1d\u5b50\u306e\u307f\u3092\u8abf\u3079\u308b\u30bf\u30fc\u30b2\u30c3\u30c8\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u884c\u3044\u307e\u3059\u3002\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u8133\u6881\u3084\u624b\u8db3\u306e\u7570\u5e38\u304c\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u75c7\u72b6\u306b\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u305f\u3081\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u7cbe\u5ea6\u306f\u9650\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4\u306e\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u3084\u5b8c\u6cbb\u3092\u76ee\u6307\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u75c7\u72b6\u3092\u548c\u3089\u3052\u3066\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u305f\u3081\u306e\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u904b\u52d5\u6a5f\u80fd\u3092\u7dad\u6301\u30fb\u6539\u5584\u3059\u308b\u305f\u3081\u306e\u30ea\u30cf\u30d3\u30ea\uff08\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\uff09\u3001\u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642\uff08\u88c5\u5177\u306e\u4f7f\u7528\u3084\u624b\u8853\uff09\u3001\u79fb\u52d5\u3092\u88dc\u52a9\u3059\u308b\u5668\u5177\u306e\u4f7f\u7528\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u77e5\u7684\u306a\u767a\u9054\u3092\u652f\u3048\u308b\u305f\u3081\u306b\u6559\u80b2\u652f\u63f4\u3084\u8a00\u8a9e\u7642\u6cd5\u3001\u793e\u4f1a\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3082\u91cd\u8981\u3067\u3059\u3002\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u8efd\u3044\u60a3\u8005\u306f\u3001\u5927\u4eba\u306b\u306a\u3063\u3066\u3082\u3088\u308a\u9ad8\u3044\u30ec\u30d9\u30eb\u306e\u81ea\u7acb\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u907a\u4f1d\u5b50\u5909\u7570\u306e\u7a2e\u985e\u3084\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u5178\u578b\u7684\u306a\u30a2\u30f3\u30c0\u30fc\u30de\u30f3\u75c7\u5019\u7fa4\u3067\u306f\u3001\u904b\u52d5\u3084\u611f\u899a\u6a5f\u80fd\u306e\u9032\u884c\u6027\u306e\u4f4e\u4e0b\u306b\u3088\u308a\u3001\u91cd\u5ea6\u306e\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u8133\u6881\u6b20\u640d\u304c\u3042\u308b\u60a3\u8005\u306f\u3001\u751f\u6daf\u306b\u308f\u305f\u308a\u4ecb\u8b77\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u6210\u4eba\u307e\u3067\u751f\u5b58\u3057\u307e\u3059\u3002\u4e00\u65b9\u3001\u8efd\u75c7\u30bf\u30a4\u30d7\u306e\u60a3\u8005\u3067\u306f\u75c7\u72b6\u306e\u9032\u884c\u306f\u6bd4\u8f03\u7684\u7de9\u3084\u304b\u3067\u3001\u6210\u4eba\u671f\u306b\u304a\u3044\u3066\u3082\u77e5\u7684\u6a5f\u80fd\u3084\u904b\u52d5\u6a5f\u80fd\u3092\u3042\u308b\u7a0b\u5ea6\u7dad\u6301\u3067\u304d\u308b\u5834\u5408\u304c\u591a\u304f\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u306e\u652f\u63f4\u3084\u6cbb\u7642\u306b\u3088\u3063\u3066\u751f\u6d3b\u306e\u8cea\u3092\u6539\u5584\u3067\u304d\u307e\u3059\u304c\u3001\u795e\u7d4c\u75c7\u72b6\u306e\u9032\u884c\u81ea\u4f53\u3092\u5b8c\u5168\u306b\u6b62\u3081\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1093\/brain\/awac488\">L\u00f8seth, S., H\u00f8yer, H., Le, K.-M., Delpire, E., Kinge, E., Lande, A., Hilmarsen, H. T., Fagerheim, T., Nilssen, \u00d8., &amp; Braathen, G. J. (2023). Late-onset sensory-motor axonal neuropathy, a novel <em>SLC12A6<\/em> -related phenotype. <em>Brain<\/em>, <em>146<\/em>(3), 912\u2013922. https:\/\/doi.org\/10.1093\/brain\/awac488<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/brain\/awad036\">Horvath, R. (2023). Complex genetic variants and novel phenotypes in hereditary peripheral neuropathies. <em>Brain<\/em>, <em>146<\/em>(3), 791\u2013792. https:\/\/doi.org\/10.1093\/brain\/awad036<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.nmd.2020.11.002\">Shi, J., Zhao, F., Pang, X., Huang, S., Wang, J., Chang, X., Zhang, J., Liu, Y., Guo, J., &amp; Zhang, W. (2021). Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy. <em>Neuromuscular Disorders<\/em>, <em>31<\/em>(2), 149\u2013157. https:\/\/doi.org\/10.1016\/j.nmd.2020.11.002<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1136\/bcr-2021-244641\">Bogdanova-Mihaylova, P., McNamara, P., Burton-Jones, S., &amp; Murphy, S. M. (2021). Expanding the phenotype of <em>SLC12A6<\/em> -associated sensorimotor neuropathy. <em>BMJ Case Reports<\/em>, <em>14<\/em>(10), e244641. https:\/\/doi.org\/10.1136\/bcr-2021-244641<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/pd.6069\">Stevens, B. K., Nunley, P. B., Wagner, C., Murphy, L., Wittman, T., Ramdaney, A., Jones, M., &amp; Choates, M. G. (2022). Utility of expanded carrier screening in pregnancies with ultrasound abnormalities. <em>Prenatal Diagnosis<\/em>, <em>42<\/em>(1), 60\u201378. https:\/\/doi.org\/10.1002\/pd.6069<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":35,"template":"page_gd.php","class_list":["post-33561","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\/33561","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":6,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33561\/revisions"}],"predecessor-version":[{"id":127741,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33561\/revisions\/127741"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33561"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}