{"id":33778,"date":"2022-07-12T13:30:05","date_gmt":"2022-07-12T04:30:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33778"},"modified":"2026-03-05T10:26:58","modified_gmt":"2026-03-05T01:26:58","slug":"hydrolethalus-syndrome","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hydrolethalus-syndrome\/","title":{"rendered":"\u30cf\u30a4\u30c9\u30ed\u30ec\u30bf\u30e9\u30b9\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>\u30d2\u30c9\u30ed\u30ea\u30fc\u30b5\u30eb\u30b9\u75c7\u5019\u7fa4\uff08HLS\uff09\u306fHYLS1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u6c34\u982d\u75c7\u3084\u591a\u6307\u75c7\u306a\u3069\u3001\u91cd\u7be4\u306a\u75c7\u72b6\u304c\u7279\u5fb4\u3067\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u51fa\u751f\u76f4\u5f8c\u306b\u4ea1\u304f\u306a\u308b\u305f\u3081\u65e9\u671f\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u91cd\u8981\u3067\u3059\u3002\u75c5\u6c17\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u308f\u304b\u308a\u3084\u3059\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>HYLS1\uff5cHydrolethalus Syndrome<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30d2\u30c9\u30ed\u30ea\u30fc\u30b5\u30eb\u30b9\u75c7\u5019\u7fa4\uff08Hydrolethalus Syndrome\uff1aHLS\uff09\u3001\u7279\u306b\u305d\u306e\u4e2d\u306e\u300c\u30d2\u30c9\u30ed\u30ea\u30fc\u30b5\u30eb\u30b9\u75c7\u5019\u7fa41\u578b\uff08Hydrolethalus Syndrome 1\uff09\u300d\u3068\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u91cd\u3044\u969c\u5bb3\u3092\u4f34\u3046\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u3001\u300cHYLS1\uff08\u30a8\u30a4\u30c1\u30fb\u30ef\u30a4\u30fb\u30a8\u30eb\u30fb\u30a8\u30b9\u30fb\u30ef\u30f3\uff09\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u5909\u7570\uff08\u907a\u4f1d\u5b50\u306e\u7570\u5e38\uff09\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002HYLS1\u907a\u4f1d\u5b50\u306f\u3001\u300c\u7e4a\u6bdb\uff08\u305b\u3093\u3082\u3046\uff09\u300d\u3068\u3044\u3046\u7d30\u80de\u306e\u5fae\u7d30\u306a\u69cb\u9020\u3092\u4f5c\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u3063\u3066\u3044\u307e\u3059\u3002\u7e4a\u6bdb\u306f\u7d30\u80de\u540c\u58eb\u306e\u60c5\u5831\u4f1d\u9054\u3084\u611f\u899a\u306e\u50cd\u304d\u3092\u6301\u3064\u3001\u975e\u5e38\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u300c\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08\u3058\u3087\u3046\u305b\u3093\u3057\u3087\u304f\u305f\u3044\u305b\u3093\u305b\u3044\u3044\u3067\u3093\uff09\u300d\u3068\u3044\u3046\u907a\u4f1d\u306e\u4ed5\u65b9\u3067\u8d77\u3053\u308a\u3001\u901a\u5e38\u306f\u51fa\u751f\u6642\u307e\u305f\u306f\u51fa\u751f\u5f8c\u307e\u3082\u306a\u304f\u6b7b\u4ea1\u3059\u308b\u975e\u5e38\u306b\u91cd\u7be4\u306a\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30d2\u30c9\u30ed\u30ea\u30fc\u30b5\u30eb\u30b9\u75c7\u5019\u7fa4\u306f\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u304c\u3001\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u3067\u7279\u306b\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u3067\u306e\u60a3\u8005\u306e\u5272\u5408\u306f\u7d042\u4e07\u4eba\u306b1\u4eba\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u304c\u898b\u3089\u308c\u308b\u598a\u5a20\u306e\u7d0470\uff05\u306f\u6b7b\u7523\u3068\u306a\u308a\u3001\u751f\u304d\u3066\u751f\u307e\u308c\u305f\u5834\u5408\u3067\u3082\u3001\u591a\u304f\u306f\u6570\u6642\u9593\u4ee5\u5185\u306b\u4ea1\u304f\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>\u30d2\u30c9\u30ed\u30ea\u30fc\u30b5\u30eb\u30b9\u75c7\u5019\u7fa4\u306f\u300cHYLS1\u907a\u4f1d\u5b50\u300d\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u67d3\u8272\u4f53\uff08\u907a\u4f1d\u60c5\u5831\u3092\u904b\u3076\u7d30\u80de\u5185\u306e\u69cb\u9020\uff09\u306e\u3046\u3061\u300c11\u756a\u67d3\u8272\u4f53\u306e\u9577\u815524.2\u9818\u57df\uff0811q24.2\uff09\u300d\u3068\u3044\u3046\u5834\u6240\u306b\u5b58\u5728\u3057\u307e\u3059\u3002HYLS1\u907a\u4f1d\u5b50\u306f\u7e4a\u6bdb\u3092\u6b63\u5e38\u306b\u4f5c\u308a\u3001\u6a5f\u80fd\u3055\u305b\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u907a\u306e\u5f79\u5272\u304c\u3042\u308a\u307e\u3059\u3002\u7e4a\u6bdb\u306f\u7d30\u80de\u306e\u52d5\u304d\u3084\u60c5\u5831\u306e\u3084\u308a\u3068\u308a\u3092\u52a9\u3051\u308b\u5927\u5207\u306a\u69cb\u9020\u3067\u3059\u3002HYLS1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u306f\u3001\u300c\u30db\u30e2\u63a5\u5408\u5909\u7570\uff08\u4e21\u89aa\u304b\u3089\u540c\u3058\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u5834\u5408\uff09\u300d\u3084\u300c\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\uff08\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u7570\u306a\u308b\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u5834\u5408\uff09\u300d\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>HYLS1\u907a\u4f1d\u5b50\u306f\u300c\u4e2d\u5fc3\u5c0f\u4f53\uff08\u3061\u3085\u3046\u3057\u3093\u3057\u3087\u3046\u305f\u3044\uff09\u300d\u3068\u3044\u3046\u7d30\u80de\u5185\u306e\u69cb\u9020\u306b\u5b58\u5728\u3057\u3001\u300c\u7e4a\u6bdb\u5f62\u6210\uff08\u305b\u3093\u3082\u3046\u3051\u3044\u305b\u3044\uff1a\u7e4a\u6bdb\u3092\u4f5c\u308b\u904e\u7a0b\uff09\u300d\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u6301\u3064\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u3063\u3066\u3044\u307e\u3059\u3002HYLS1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u3001\u3053\u306e\u7e4a\u6bdb\u3092\u4f5c\u308b\u6700\u521d\u306e\u91cd\u8981\u306a\u6bb5\u968e\u304c\u969c\u5bb3\u3055\u308c\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u7e4a\u6bdb\u3092\u5f62\u6210\u3059\u308b\u969b\u306b\u4e2d\u5fc3\u5c0f\u4f53\u304c\u7d30\u80de\u306e\u8868\u9762\u307e\u3067\u6b63\u3057\u304f\u79fb\u52d5\u3057\u3066\u56fa\u5b9a\u3055\u308c\u308b\u904e\u7a0b\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308a\u3001\u300c\u79fb\u884c\u5e2f\uff08\u3044\u3053\u3046\u305f\u3044\uff09\u300d\u3084\u300c\u79fb\u884c\u7dda\u7dad\uff08\u3044\u3053\u3046\u305b\u3093\u3044\uff09\u300d\u3068\u3044\u3046\u7e4a\u6bdb\u306e\u5165\u53e3\u90e8\u5206\u304c\u6b63\u5e38\u306b\u50cd\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u7e4a\u6bdb\u306b\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5165\u308a\u306b\u304f\u304f\u306a\u308a\u3001\u7e4a\u6bdb\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u7e4a\u6bdb\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3092\u300c\u7e4a\u6bdb\u75c5\uff08\u305b\u3093\u3082\u3046\u3073\u3087\u3046\uff1aciliopathy\uff09\u300d\u3068\u8a00\u3044\u307e\u3059\u3002\u30d2\u30c9\u30ed\u30ea\u30fc\u30b5\u30eb\u30b9\u75c7\u5019\u7fa4\u306f\u3001\u3053\u306e\u7e4a\u6bdb\u75c5\u306e\u3072\u3068\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"wp-block-greentreelabs-post-snippets-block\">HYLS1\u907a\u4f1d\u5b50\u3067\u3042\u308c\u3070\u5f53\u9662\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance FM+\u30d7\u30e9\u30f3<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance GM+\u30d7\u30e9\u30f3<\/a>\u3067\u691c\u67fb\u304c\u53ef\u80fd\u3068\u306a\u3063\u3066\u304a\u308a\u307e\u3059\u3002<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>\u30d2\u30c9\u30ed\u30ea\u30fc\u30b5\u30eb\u30b9\u75c7\u5019\u7fa4\u3067\u306f\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\uff08Central Nervous System\uff1aCNS\uff09\u306b\u6df1\u523b\u306a\u7570\u5e38\u304c\u73fe\u308c\u307e\u3059\u3002\u6700\u3082\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u306f\u3001\u6c34\u982d\u75c7\uff08\u3059\u3044\u3068\u3046\u3057\u3087\u3046\uff1a\u8133\u5185\u306b\u6c34\u304c\u6e9c\u307e\u308a\u8133\u304c\u5727\u8feb\u3055\u308c\u308b\u75c5\u6c17\uff09\u3084\u3001\u8133\u306e\u4e2d\u592e\u90e8\u5206\u306e\u69cb\u9020\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u3001\u984e\u304c\u7570\u5e38\u306b\u5c0f\u3055\u3044\u300c\u5c0f\u984e\u75c7\uff08\u3057\u3087\u3046\u304c\u304f\u3057\u3087\u3046\uff09\u300d\u306a\u3069\u3067\u3059\u3002\u305d\u306e\u307b\u304b\u306b\u3082\u624b\u3084\u8db3\u306e\u6307\u304c\u901a\u5e38\u3088\u308a\u591a\u3044\u300c\u591a\u6307\u75c7\uff08\u305f\u3057\u3057\u3087\u3046\uff09\u300d\u3068\u3044\u3046\u75c7\u72b6\u304c\u3088\u304f\u898b\u3089\u308c\u3001\u7279\u306b\u624b\u306e\u5c0f\u6307\u5074\u3001\u8db3\u306e\u89aa\u6307\u5074\u306b\u591a\u304f\u8d77\u3053\u308a\u307e\u3059\u3002\u307e\u305f\u300c\u4e8c\u91cd\u6bcd\u8dbe\uff08\u306b\u3058\u3085\u3046\u307c\u3057\uff09\u300d\u3068\u3044\u3063\u3066\u3001\u8db3\u306e\u89aa\u6307\u304c\u4e8c\u672c\u3042\u308b\u3068\u3044\u3046\u73cd\u3057\u3044\u7279\u5fb4\u3082\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u53e3\u5507\u88c2\uff08\u3053\u3046\u3057\u3093\u308c\u3064\uff1a\u5507\u304c\u5272\u308c\u3066\u3044\u308b\u72b6\u614b\uff09\u3084\u53e3\u84cb\u88c2\uff08\u3053\u3046\u304c\u3044\u308c\u3064\uff1a\u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u5272\u308c\u3066\u3044\u308b\u72b6\u614b\uff09\u3001\u5185\u53cd\u8db3\uff08\u8db3\u304c\u5185\u5074\u306b\u66f2\u304c\u3063\u305f\u72b6\u614b\uff09\u3001\u8033\u30fb\u76ee\u30fb\u9f3b\u306a\u3069\u9854\u306e\u5f62\u306e\u7570\u5e38\u3001\u5f8c\u982d\u90e8\u306b\u9375\u7a74\u306e\u3088\u3046\u306a\u9aa8\u306e\u6b20\u640d\u3001\u751f\u6b96\u5668\u306e\u7570\u5e38\u3001\u5fc3\u81d3\u3084\u547c\u5438\u5668\u306e\u5148\u5929\u7684\u306a\u6b20\u9665\u3082\u73fe\u308c\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>\u30d2\u30c9\u30ed\u30ea\u30fc\u30b5\u30eb\u30b9\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u306f\u3001HYLS1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u3082\u3001\u6c34\u982d\u75c7\u3084\u591a\u6307\u75c7\u3001\u7f8a\u6c34\u304c\u7570\u5e38\u306b\u5897\u3048\u308b\u300c\u7f8a\u6c34\u904e\u591a\u75c7\uff08\u3088\u3046\u3059\u3044\u304b\u305f\u3057\u3087\u3046\uff09\u300d\u306a\u3069\u306e\u75c7\u72b6\u304c\u598a\u5a20\u306e\u521d\u671f\uff08\u4e09\u30f6\u6708\u9803\uff09\u304b\u3089\u691c\u51fa\u3067\u304d\u307e\u3059\u3002\u3055\u3089\u306b\u8a73\u3057\u3044\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306fHYLS1\u907a\u4f1d\u5b50\u3092\u89e3\u6790\u3059\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u8981\u3067\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\u3001\u30d2\u30c9\u30ed\u30ea\u30fc\u30b5\u30eb\u30b9\u75c7\u5019\u7fa4\u306b\u306f\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306e\u65b9\u91dd\u3068\u3057\u3066\u306f\u3001\u598a\u5a20\u306e\u65e9\u3044\u6bb5\u968e\u3067\u75c5\u6c17\u3092\u898b\u3064\u3051\u3001\u5341\u5206\u306a\u8aac\u660e\u3092\u53d7\u3051\u3066\u305d\u306e\u5f8c\u306e\u5bfe\u5fdc\u3092\u8003\u3048\u308b\u3053\u3068\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u598a\u5a20\u521d\u671f\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u75c5\u6c17\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u305d\u306e\u5f8c\u306e\u598a\u5a20\u306e\u7d99\u7d9a\u3092\u65ad\u5ff5\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u751f\u307e\u308c\u305f\u5834\u5408\u3067\u3082\u75c5\u6c17\u81ea\u4f53\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u96e3\u3057\u304f\u3001\u8d64\u3061\u3083\u3093\u306e\u82e6\u75db\u3092\u8efd\u6e1b\u3059\u308b\u305f\u3081\u306e\u7de9\u548c\u30b1\u30a2\uff08\u75db\u307f\u3084\u82e6\u3057\u3055\u3092\u548c\u3089\u3052\u308b\u305f\u3081\u306e\u5bfe\u5fdc\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u30d2\u30c9\u30ed\u30ea\u30fc\u30b5\u30eb\u30b9\u75c7\u5019\u7fa4\u306e\u4e88\u5f8c\uff08\u75c5\u6c17\u306e\u4eca\u5f8c\u306e\u898b\u901a\u3057\uff09\u306f\u975e\u5e38\u306b\u60aa\u304f\u3001\u75c7\u72b6\u306e\u91cd\u3055\u304b\u3089\u3001\u307b\u3068\u3093\u3069\u306e\u8d64\u3061\u3083\u3093\u306f\u6b7b\u7523\u307e\u305f\u306f\u51fa\u751f\u5f8c\u3059\u3050\u306b\u4ea1\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d2\u30c9\u30ed\u30ea\u30fc\u30b5\u30eb\u30b9\u75c7\u5019\u7fa4\u306f\u751f\u307e\u308c\u3064\u304d\u306e\u7570\u5e38\u304c\u6975\u3081\u3066\u91cd\u304f\u3001\u4e88\u5f8c\u306f\u975e\u5e38\u306b\u60aa\u3044\u75c5\u6c17\u3067\u3059\u3002\u901a\u5e38\u3001\u65b0\u751f\u5150\u671f\u3092\u8d8a\u3048\u3066\u751f\u5b58\u3059\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u7f8a\u6c34\u904e\u591a\u75c7\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/premature-birth\/\">\u65e9\u7523<\/a>\u3068\u3044\u3063\u305f\u91cd\u3044\u598a\u5a20\u5408\u4f75\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3082\u3042\u308a\u307e\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\/10.1101\/gad.1810409\">Dammermann, A., Pemble, H., Mitchell, B. J., McLeod, I., Yates, J. R., Kintner, C., Desai, A. B., &amp; Oegema, K. (2009). The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation. <em>Genes &amp; Development<\/em>, <em>23<\/em>(17), 2046\u20132059. https:\/\/doi.org\/10.1101\/gad.1810409<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.julkari.fi\/bitstream\/handle\/10024\/80094\/25d17645-5fd4-4c35-b098-7983d599a479.pdf?sequence=1\">Honkala, H. (2009). <em>The molecular basis of Hydrolethalus syndrome<\/em>. National Institute for Health and Welfare= Terveyden ja hyvinvoinnin laitos (THL).<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12987-024-00513-z\">Hale, A.T., Boudreau, H., Devulapalli, R. <em>et al.<\/em> The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact. <em>Fluids Barriers CNS<\/em> <strong>21<\/strong>, 24 (2024). https:\/\/doi.org\/10.1186\/s12987-024-00513-z<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.c.31972\">Wallmeier, J., Dallmayer, M., &amp; Omran, H. (2022). The role of cilia for hydrocephalus formation. <em>American Journal of Medical Genetics Part C: Seminars in Medical Genetics<\/em>, <em>190<\/em>(1), 47\u201356. https:\/\/doi.org\/10.1002\/ajmg.c.31972<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/ncomms12437\">Wei, Q., Zhang, Y., Schouteden, C. <em>et al.<\/em> The hydrolethalus syndrome protein HYLS-1 regulates formation of the ciliary gate. <em>Nat Commun<\/em> <strong>7<\/strong>, 12437 (2016). https:\/\/doi.org\/10.1038\/ncomms12437<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":33,"template":"page_gd.php","class_list":["post-33778","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\/33778","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":7,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33778\/revisions"}],"predecessor-version":[{"id":125488,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33778\/revisions\/125488"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33778"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}