{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:21:52Z","timestamp":1790976112688,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2006,5,10]],"date-time":"2006-05-10T00:00:00Z","timestamp":1147219200000},"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":[[2006,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mowat\u2013Wilson syndrome (MWS) is a rare mental retardation\u2014multiple congenital anomalies syndrome associated with typical facial dysmorphism. Patients can show a variety of other anomalies like short stature, microcephaly, Hirschsprung disease, malformations of the brain, seizures, congenital heart defects and urogenital anomalies. Mutations leading to haploinsufficiency of the <jats:italic>ZFHX1B<\/jats:italic> gene have been described as the underlying cause of this condition. We report on the clinical findings in a 2\u00bd\u2010year\u2010old boy with some aspects out of the MWS\u2010spectrum in addition to unusual anomalies and a novel missense mutation in the <jats:italic>ZFHX1B<\/jats:italic> gene. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31267","type":"journal-article","created":{"date-parts":[[2006,5,10]],"date-time":"2006-05-10T22:34:18Z","timestamp":1147300458000},"page":"1223-1227","source":"Crossref","is-referenced-by-count":30,"title":["A missense mutation in the <i>ZFHX1B<\/i> gene associated with an atypical Mowat\u2013Wilson syndrome phenotype"],"prefix":"10.1002","volume":"140A","author":[{"given":"Wolfram","family":"Heinritz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Zweier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula G.","family":"Froster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sibylle","family":"Strenge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annegret","family":"Kujat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Syrbe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Schuster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,5,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/324342"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2003.10.004"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1503"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(02)00062-X"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30312"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016154"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30896"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.617"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.305"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/86860"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20053"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/324343"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000034842.78350.4E"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10226"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.601"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.01.003"}],"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.31267","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31267","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T06:49:52Z","timestamp":1697093392000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31267"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5,10]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2006,6]]}},"alternative-id":["10.1002\/ajmg.a.31267"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31267","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5,10]]}}}