{"id":630,"date":"2019-11-13T12:00:09","date_gmt":"2019-11-13T03:00:09","guid":{"rendered":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/?p=630"},"modified":"2023-10-16T18:25:07","modified_gmt":"2023-10-16T09:25:07","slug":"%e6%8e%b2%e8%bc%89%e6%83%85%e5%a0%b1-2","status":"publish","type":"post","link":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/?p=630","title":{"rendered":"\u63b2\u8f09\u60c5\u5831\uff08\u8ad6\u6587\uff09"},"content":{"rendered":"\n<p class=\"has-very-dark-gray-color has-text-color wp-block-paragraph\">\u540d\u53e4\u5c4b\u5e02\u7acb\u5927\u5b66\u5c0f\u5150\u79d1 \u9f4b\u85e4 \u4f38\u6cbb\u6559\u6388\u3089\u3068\u306e\u5171\u540c\u7814\u7a76\u304c\u8ad6\u6587\u63b2\u8f09\u3055\u308c\u307e\u3057\u305f\u3002<br>Biallelic VPS35L pathogenic variants cause 3C\/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.<br>Kato K, Oka Y, Muramatsu H, <span style=\"text-decoration: underline;\">Vasilev FF<\/span>, <span style=\"text-decoration: underline;\">Otomo T<\/span>, Oishi H, Kawano Y, Kidokoro H, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S.<br><strong><em>J Med Genet.<\/em><\/strong> 2019 [Epub ahead of print] <span style=\"text-decoration: underline;\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31712251\" target=\"_blank\" rel=\"noreferrer noopener\" aria-label=\" (\u65b0\u3057\u3044\u30bf\u30d6\u3067\u958b\u304f)\">PMID:&nbsp;31712251<\/a><\/span><br><br>\u79c1\u305f\u3061\u3082\u5fae\u529b\u306a\u304c\u3089\u89e3\u6790\u306b\u5354\u529b\u3055\u305b\u3066\u3044\u305f\u3060\u304d\u307e\u3057\u305f\u3002\u7b46\u982d\u8457\u8005\u306e\u52a0\u85e4\u5148\u751f\u306f\u672c\u7814\u7a76\u3092\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u3067\u767a\u8868\u3057\u3001\u5927\u4f1a\u8cde\u3092\u53d7\u8cde\u3055\u308c\u307e\u3057\u305f\uff01\u304a\u3081\u3067\u3068\u3046\u3054\u3056\u3044\u307e\u3059\uff01\uff01<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u540d\u53e4\u5c4b\u5e02\u7acb\u5927\u5b66\u5c0f\u5150\u79d1 \u9f4b\u85e4 \u4f38\u6cbb\u6559\u6388\u3089\u3068\u306e\u5171\u540c\u7814\u7a76\u304c\u8ad6\u6587\u63b2\u8f09\u3055\u308c\u307e\u3057\u305f\u3002Biallelic VPS35L pathogenic variants cause 3C\/Ritscher-Schinzel-like syndr&hellip;<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-630","post","type-post","status-publish","format-standard","hentry","category-1"],"_links":{"self":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/posts\/630","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=630"}],"version-history":[{"count":5,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/posts\/630\/revisions"}],"predecessor-version":[{"id":878,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=\/wp\/v2\/posts\/630\/revisions\/878"}],"wp:attachment":[{"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=630"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=630"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/m.kawasaki-m.ac.jp\/mgm-lyso\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=630"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}