{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T01:11:53Z","timestamp":1774487513770,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T00:00:00Z","timestamp":1123459200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mowat\u2013Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease. Heterozygous mutations or deletions involving the gene <jats:italic>ZFHX1B<\/jats:italic> (previously <jats:italic>SIP1<\/jats:italic>) [OMIM 605802] have recently been found to cause MWS. There have previously been no reports of a sibling recurrence of this syndrome. A brother and sister are described with clinical features of MWS, where both have the same truncating mutation in exon 8 of <jats:italic>ZFHX1B<\/jats:italic>. As their parents are phenotypically normal and do not have the mutation in lymphocyte\u2010derived DNA, the most likely explanation is germ\u2010line mosaicism. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30896","type":"journal-article","created":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T19:53:28Z","timestamp":1123530808000},"page":"302-304","source":"Crossref","is-referenced-by-count":41,"title":["Recurrence of Mowat\u2013Wilson syndrome in siblings with the same proven mutation"],"prefix":"10.1002","volume":"137A","author":[{"given":"Julie","family":"McGaughran","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Sinnott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence Dastot\u2010Le","family":"Moal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meredith","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Mowat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bridget","family":"Sutton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Goossens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,8,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1503"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.865"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30312"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20298"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016154"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000131)90:3<250::AID-AJMG13>3.0.CO;2-3"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.617"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.305"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/302322"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.2.102"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/86860"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20053"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050708"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10226"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30896","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30896","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:19:07Z","timestamp":1700155147000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30896"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,8,8]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["10.1002\/ajmg.a.30896"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30896","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,8,8]]}}}