{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:11:35Z","timestamp":1777803095995,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2008,1,11]],"date-time":"2008-01-11T00:00:00Z","timestamp":1200009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:p>We herein report 3 cases of Mowat-Wilson syndrome, characterized by distinct facial features, severe psychomotor retardation, and epilepsy, recurring in 3 siblings from the same parents. The proband was a 15-month-old boy, the youngest of 3 children (2 elder sisters), who was referred to our hospital for the treatment of severe seizures. The clinical features and course of these 3 siblings were compatible with those of previously reported Mowat-Wilson syndrome patients, and all siblings had the same E87X nonsense mutation in ZFHX1B, whereas their mother did not show the mutation. Because Mowat-Wilson syndrome has been caused by de novo mutation in ZF HX1B, germ-line mosaicism should be considered if recurrence in siblings is observed.<\/jats:p>","DOI":"10.1177\/0883073807309231","type":"journal-article","created":{"date-parts":[[2008,1,30]],"date-time":"2008-01-30T00:19:28Z","timestamp":1201652368000},"page":"274-278","source":"Crossref","is-referenced-by-count":17,"title":["Mowat-Wilson Syndrome Affecting 3 Siblings"],"prefix":"10.1177","volume":"23","author":[{"given":"Motoko","family":"Ohtsuka","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirokazu","family":"Oguni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Women's Medical University,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiro","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Matsuo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makiko","family":"Osawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Tokyo Women's Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasukazu","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuaki","family":"Wakamatsu","sequence":"additional","affiliation":[{"name":"Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2008,1,11]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.617"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1038\/86860"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10855"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1086\/324342"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20053"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016154"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.01.003"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30896"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1016\/B978-012431152-7\/50008-2"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1086\/324343"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1086\/346092"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073807309231","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073807309231","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:03Z","timestamp":1777494903000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073807309231"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,11]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1177\/0883073807309231"],"URL":"https:\/\/doi.org\/10.1177\/0883073807309231","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,11]]}}}