{"id":33784,"date":"2022-07-12T13:34:51","date_gmt":"2022-07-12T04:34:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33784"},"modified":"2026-04-28T13:53:44","modified_gmt":"2026-04-28T04:53:44","slug":"joubert-syndrome-type-2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/joubert-syndrome-type-2\/","title":{"rendered":"Joubert\u75c7\u5019\u7fa42\u578b\uff08JBTS2\uff09"},"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>Joubert\u75c7\u5019\u7fa42\u578b\uff08JBTS2\uff09\u306f\u3001TMEM216\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u7a00\u306a\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u81fc\u6b6f\u5fb4\u5019\uff08molar tooth sign\uff09\u306a\u3069\u306e\u7279\u5fb4\u7684\u306a\u8133MRI\u6240\u898b\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u30fb\u7ba1\u7406\u6cd5\u3001\u305d\u3057\u3066\u6700\u65b0\u306e\u907a\u4f1d\u5b50\u7814\u7a76\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u30b1\u30a2\u304c\u91cd\u8981\u3068\u306a\u308b\u672c\u75be\u60a3\u306b\u3064\u3044\u3066\u3001\u308f\u304b\u308a\u3084\u3059\u304f\u3054\u7d39\u4ecb\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>TMEM216\uff5cJoubert Syndrome, Type 2<\/p>\n\n\n\n<p><sup>Cerebellooculorenal Syndrome 2<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>Joubert\u75c7\u5019\u7fa42\u578b\uff08Joubert Syndrome, Type 2, JBTS2\uff09\u306f\u3001<strong>TMEM216\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3042\u308a\u3001<strong>\u5c0f\u8133\u866b\u90e8\u5f62\u6210\u4e0d\u5168<\/strong>\u304a\u3088\u3073\u8133\u5e79\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3059\u308b\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3067\u3042\u308b\u3002\u672c\u75c7\u3067\u306f\u3001MRI\u306b\u304a\u3044\u3066\u300c<strong>\u81fc\u6b6f\u5fb4\u5019\uff08molar tooth sign\uff09<\/strong>\u300d\u3068\u547c\u3070\u308c\u308b\u7279\u6709\u306e\u69cb\u9020\u7570\u5e38\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3002\u4e3b\u306a\u81e8\u5e8a\u75c7\u72b6\u306b\u306f\u3001<strong>\u4f4e\u7dca\u5f35\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u3001\u904b\u52d5\u5931\u8abf\u3001\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u3001\u773c\u7403\u904b\u52d5\u5931\u884c\u3001\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u7570\u5e38<\/strong>\u304c\u542b\u307e\u308c\u308b\u3002\u307e\u305f\u3001\u7db2\u819c\u7570\u5e38\u3001\u591a\u6307\u75c7\u3001\u809d\u7dda\u7dad\u5316\u3001\u814e\u75be\u60a3\u306a\u3069\u306e\u591a\u81d3\u5668\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>JBTS2\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b<strong>TMEM216<\/strong>\u306f\u3001\u7d30\u80de\u5c0f\u5668\u5b98\u3067\u3042\u308b\u4e00\u6b21\u7e4a\u6bdb\uff08primary cilium\uff09<strong>\u306e\u6a5f\u80fd\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6b20\u640d\u306f<\/strong>\u7e4a\u6bdb\u75c5\uff08ciliopathy\uff09\u306e\u4e00\u7a2e\u3067\u3042\u308bJoubert\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\u308b\u3002\u3055\u3089\u306b\u3001Meckel\u75c7\u5019\u7fa42\u578b\uff08MKS2\uff09<strong>\u3084<\/strong>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c798\u578b\uff08RP98\uff09\u3068\u3044\u3063\u305f\u4ed6\u306e\u7e4a\u6bdb\u95a2\u9023\u75be\u60a3\u3068\u3082\u95a2\u9023\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>Joubert\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u6709\u75c5\u7387\u306f\u63a8\u5b9a1.7\/100,000\uff080\u301c19\u6b73\u306e\u5e74\u9f62\u5c64\uff09\u3067\u3042\u308a\u3001TMEM216\u95a2\u9023JBTS2\u306f\u6bd4\u8f03\u7684\u7a00\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u306b\u5206\u985e\u3055\u308c\u308b\u3002Joubert\u75c7\u5019\u7fa4\u306f\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u304c\u3001<strong>Ashkenazi\u7cfb\u30e6\u30c0\u30e4\u4eba\u96c6\u56e3\u3067\u306fTMEM216\u907a\u4f1d\u5b50\u306ep.R73L*\u5909\u7570\u304c\u9ad8\u983b\u5ea6<\/strong>\u3067\u8a8d\u3081\u3089\u308c\u308b\u306a\u3069\u3001\u4e00\u90e8\u306e\u6c11\u65cf\u96c6\u56e3\u3067\u306f\u7279\u5b9a\u306e\u5909\u7570\u304c\u96c6\u7a4d\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u307e\u3067\u306bJoubert\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u306f<strong>40\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u304c\u540c\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u5b50\u578b\u3068\u81e8\u5e8a\u8868\u73fe\u578b\u306e\u76f8\u95a2\u304c\u5f90\u3005\u306b\u660e\u3089\u304b\u306b\u306a\u308a\u3064\u3064\u3042\u308b\u3002\u4f8b\u3048\u3070\u3001<strong>TMEM67\u5909\u7570\u306f\u809d\u7dda\u7dad\u5316\u3092\u4f34\u3046Joubert\u75c7\u5019\u7fa4\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u3001NPHP1\u3001RPGRIP1L\u3001TMEM237\u306e\u5909\u7570\u306f\u814e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b<\/strong>\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p><strong>TMEM216\u907a\u4f1d\u5b50<\/strong>\u306f<strong>11q12.2<\/strong>\u306b\u4f4d\u7f6e\u3057\u3001\u4e00\u6b21\u7e4a\u6bdb\u306e\u69cb\u9020\u7dad\u6301\u3068\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u95a2\u4e0e\u3059\u308b\u819c\u8cab\u901a\u578b\u30bf\u30f3\u30d1\u30af\u8cea<strong>Transmembrane Protein 216<\/strong>\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002\u7e4a\u6bdb\u306f\u3001\u767a\u751f\u904e\u7a0b\u3084\u7d44\u7e54\u306e\u6052\u5e38\u6027\u7dad\u6301\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u305d\u306e\u6a5f\u80fd\u7570\u5e38\u306fJoubert\u75c7\u5019\u7fa4\u3092\u542b\u3080\u69d8\u3005\u306a\u7e4a\u6bdb\u75c5\u306e\u767a\u75c7\u306b\u3064\u306a\u304c\u308b\u3002<\/p>\n\n\n\n<p>TMEM216\u306e\u6a5f\u80fd\u55aa\u5931\u306f\u4ee5\u4e0b\u306e\u75be\u60a3\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Meckel\u75c7\u5019\u7fa42\u578b\uff08MKS2\uff09<\/strong>\uff1a\u814e\u56a2\u80de\u3001\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u7570\u5e38\uff08\u901a\u5e38\u3001\u5f8c\u982d\u90e8\u8133\u7624\uff09\u3001\u809d\u80c6\u7ba1\u7570\u5f62\u6210\u3001\u591a\u6307\u75c7\u3092\u7279\u5fb4\u3068\u3059\u308b\u91cd\u7be4\u306a\u7e4a\u6bdb\u75c5\u3002<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c798\u578b\uff08RP98\uff09<\/strong>\uff1a\u591c\u76f2\u3084\u8996\u91ce\u72ed\u7a84\u3092\u4f34\u3046\u7db2\u819c\u5909\u6027\u75be\u60a3\u3067\u3001\u5c0f\u5150\u671f\u65e9\u671f\u306b\u767a\u75c7\u3059\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p>JBTS2\u306b\u304a\u3044\u3066\u306f\u3001<strong>\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\u3001\u4e0a\u5c0f\u8133\u811a\u306e\u80a5\u539a\u3001\u8996\u5e8a\u9593\u6e9d\u306e\u62e1\u5927<\/strong>\u3068\u3044\u3063\u305f\u8133\u69cb\u9020\u7570\u5e38\u304c\u751f\u3058\u3001\u3053\u308c\u304c<strong>\u81fc\u6b6f\u5fb4\u5019<\/strong>\u3068\u3057\u3066MRI\u3067\u78ba\u8a8d\u3055\u308c\u308b\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>JBTS2\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u4e3b\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u3092\u793a\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u75c7\u72b6<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u7dca\u5f35\uff08\u65b0\u751f\u5150\u671f\u306b\u9855\u8457\uff09<\/li>\n\n\n\n<li>\u5c0f\u8133\u6027\u904b\u52d5\u5931\u8abf\uff08\u6b69\u884c\u56f0\u96e3\u3001\u30d0\u30e9\u30f3\u30b9\u306e\u4e0d\u5b89\u5b9a\u6027\uff09<\/li>\n\n\n\n<li>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede<\/li>\n\n\n\n<li>\u773c\u7403\u904b\u52d5\u5931\u884c\uff08Oculomotor Apraxia, OMA\uff09<\/li>\n\n\n\n<li>\u547c\u5438\u7570\u5e38\uff08\u9593\u6b20\u7684\u904e\u547c\u5438\u3084\u7121\u547c\u5438\u3001\u901a\u5e38\u4e73\u5150\u671f\u306b\u9855\u8457\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5168\u8eab\u75c7\u72b6\uff08\u81d3\u5668\u969c\u5bb3\u3092\u4f34\u3046\u5834\u5408\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u7684\u7570\u5e38<\/strong>\uff1a\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3001\u773c\u7403\u632f\u76ea\u3001\u8996\u795e\u7d4c\u840e\u7e2e<\/li>\n\n\n\n<li><strong>\u814e\u75be\u60a3<\/strong>\uff1a\u30cd\u30d5\u30ed\u30f3\u7646\uff08Nephronophthisis\uff09\u3001\u814e\u56a2\u80de\u3001\u6162\u6027\u814e\u4e0d\u5168<\/li>\n\n\n\n<li><strong>\u809d\u75be\u60a3<\/strong>\uff1a\u809d\u7dda\u7dad\u5316\u3001\u80c6\u7ba1\u7570\u5f62\u6210\uff08COACH\u75c7\u5019\u7fa4\uff09<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38<\/strong>\uff1a\u591a\u6307\u75c7\uff08pre-, meso-, post-axial\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u81e8\u5e8a\u8868\u73fe\u578b\u306f<strong>\u9ad8\u5ea6\u306b\u53ef\u5909\u7684<\/strong>\u3067\u3042\u308a\u3001\u60a3\u8005\u306b\u3088\u3063\u3066\u91cd\u75c7\u5ea6\u304c\u7570\u306a\u308b\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>Joubert\u75c7\u5019\u7fa42\u578b\u306e\u8a3a\u65ad\u306b\u306f\u4ee5\u4e0b\u306e\u624b\u6cd5\u304c\u7528\u3044\u3089\u308c\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u753b\u50cf\u8a3a\u65ad<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u8133MRI<\/strong>\uff08\u81fc\u6b6f\u5fb4\u5019\u306e\u78ba\u8a8d\uff09<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u30fb\u773c\u5e95\u691c\u67fb<\/strong>\uff08\u7db2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u8a55\u4fa1\uff09<\/li>\n\n\n\n<li><strong>\u814e\u30a8\u30b3\u30fc\u30fbMRI<\/strong>\uff08\u814e\u56a2\u80de\u3001\u814e\u4e0d\u5168\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>TMEM216\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790<\/strong>\uff08\u7279\u306bAshkenazi\u7cfb\u30e6\u30c0\u30e4\u4eba\u3067\u983b\u5ea6\u304c\u9ad8\u3044p.R73L*\u5909\u7570\uff09<\/li>\n\n\n\n<li>\u4ed6\u306eJoubert\u75c7\u5019\u7fa4\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u89e3\u6790\uff08\u30de\u30eb\u30c1\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>JBTS2\u306b\u5bfe\u3059\u308b\u7279\u7570\u7684\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u306a\u3044\u305f\u3081\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u304a\u3088\u3073\u5408\u4f75\u75c7\u7ba1\u7406\u304c\u91cd\u8981\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\uff08\u6b69\u884c\u8a13\u7df4\u3001\u904b\u52d5\u6a5f\u80fd\u5411\u4e0a\uff09<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5\uff08\u624b\u6307\u306e\u5354\u8abf\u904b\u52d5\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\uff09<\/li>\n\n\n\n<li>\u8a00\u8a9e\u7642\u6cd5\uff08\u767a\u8a9e\u30fb\u56a5\u4e0b\u969c\u5bb3\u3078\u306e\u5bfe\u5fdc\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5408\u4f75\u75c7\u7ba1\u7406<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u773c\u79d1\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\uff08\u8996\u529b\u4f4e\u4e0b\u30fb\u7db2\u819c\u5909\u6027\u306e\u9032\u884c\u76e3\u8996\uff09<\/li>\n\n\n\n<li>\u814e\u6a5f\u80fd\u7ba1\u7406\uff08\u6162\u6027\u814e\u75be\u60a3\u306e\u65e9\u671f\u767a\u898b\u30fb\u900f\u6790\u306e\u9069\u5fdc\u5224\u65ad\uff09<\/li>\n\n\n\n<li>\u809d\u75be\u60a3\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\uff08\u809d\u7dda\u7dad\u5316\u306e\u9032\u884c\u6291\u5236\uff09<\/li>\n\n\n\n<li>\u547c\u5438\u7ba1\u7406\uff08\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u7570\u5e38\u3078\u306e\u5bfe\u7b56\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>Joubert\u75c7\u5019\u7fa42\u578b\u306e<strong>\u4e88\u5f8c\u306f\u8868\u73fe\u578b\u306b\u4f9d\u5b58<\/strong>\u3059\u308b\u3002\u7d14\u7c8b\u306b\u795e\u7d4c\u75c7\u72b6\u306e\u307f\u3092\u793a\u3059\u5834\u5408\u306f\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea\u304c\u5411\u4e0a\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u304c\u3001<strong>\u814e\u4e0d\u5168\u3084\u809d\u7dda\u7dad\u5316\u3092\u4f34\u3046\u5834\u5408\u306f\u751f\u547d\u4e88\u5f8c\u304c\u60aa\u5316\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b<\/strong>\u3002<\/p>\n\n\n\n<p>\u7db2\u819c\u5909\u6027\u304c\u9032\u884c\u3059\u308b\u3068\u8996\u899a\u969c\u5bb3\u304c\u8457\u3057\u304f\u306a\u308a\u3001\u91cd\u5ea6\u306e\u814e\u75be\u60a3\u304c\u9032\u884c\u3057\u305f\u5834\u5408\u306b\u306f\u900f\u6790\u3084\u814e\u79fb\u690d\u304c\u5fc5\u8981\u3068\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u591a\u5206\u91ce\u306b\u308f\u305f\u308b\u5c02\u9580\u7684\u306a\u7ba1\u7406\u304c\u3001\u60a3\u8005\u306e\u4e88\u5f8c\u6539\u5584\u306b\u5bc4\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u3002<\/p>\n\n\n\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\/10.1055\/s-0042-1760242\">Amorini, M., Iapadre, G., Mancuso, A., Ceravolo, I., Farello, G., Scardamaglia, A., Gramaglia, S., Ceravolo, A., Salpietro, A., &amp; Cuppari, C. (2023). An overview of genes involved in the pure joubert syndrome and in joubert syndrome-related disorders(Jsrd). <em>Journal of Pediatric Neurology<\/em>, <em>21<\/em>(01), 023\u2013032. https:\/\/doi.org\/10.1055\/s-0042-1760242<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.c.31963\">Gana, S., Serpieri, V., &amp; Valente, E. M. (2022). Genotype\u2013phenotype correlates in Joubert syndrome: A review. <em>American Journal of Medical Genetics Part C: Seminars in Medical Genetics<\/em>, <em>190<\/em>(1), 72\u201388. https:\/\/doi.org\/10.1002\/ajmg.c.31963<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.34763\/JMOTHERANDCHILD.20222601.D-22-00034\">Spahiu, L., Behluli, E., Graiqevci Uka, V., Liehr, T., &amp; Temaj, G. (2022). Joubert syndrome: Molecular basis and treatment. <em>Journal of Mother and Child. Medycyna Wieku Rozwojowego<\/em>, <em>26<\/em>(1). https:\/\/doi.org\/10.34763\/JMOTHERANDCHILD.20222601.D-22-00034<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1146\/annurev-genom-121321-093528\">Van De Weghe, J. C., Gomez, A., &amp; Doherty, D. (2022). The joubert\u2013meckel\u2013nephronophthisis spectrum of ciliopathies. <em>Annual Review of Genomics and Human Genetics<\/em>, <em>23<\/em>(1), 301\u2013329. https:\/\/doi.org\/10.1146\/annurev-genom-121321-093528<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>Joubert\u75c7\u5019\u7fa4, JBTS2, TMEM216, \u81fc\u6b6f\u5fb4\u5019, \u5c0f\u8133\u866b\u90e8\u5f62\u6210\u4e0d\u5168, \u773c\u7403\u904b\u52d5\u5931\u884c, \u907a\u4f1d\u5b50\u5909\u7570, \u7e4a\u6bdb\u75c5, MRI\u8a3a\u65ad, \u30cd\u30d5\u30ed\u30f3\u7646, \u809d\u7dda\u7dad\u5316, \u591a\u6307\u75c7<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":31,"template":"page_gd.php","class_list":["post-33784","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\/33784","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":11,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33784\/revisions"}],"predecessor-version":[{"id":127752,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33784\/revisions\/127752"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33784"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}