{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T17:31:40Z","timestamp":1776360700112,"version":"3.51.2"},"reference-count":26,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2005,4,1]],"date-time":"2005-04-01T00:00:00Z","timestamp":1112313600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,4,1]],"date-time":"2005-04-01T00:00:00Z","timestamp":1112313600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2005,4]]},"DOI":"10.1016\/j.ejmg.2005.01.003","type":"journal-article","created":{"date-parts":[[2005,4,18]],"date-time":"2005-04-18T13:29:14Z","timestamp":1113830954000},"page":"97-111","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":108,"title":["Clinical and Mutational Spectrum of Mowat\u2013Wilson Syndrome"],"prefix":"10.1016","volume":"48","author":[{"given":"Christiane","family":"Zweier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian T","family":"Thiel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Dufke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanick J","family":"Crow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Meinecke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohnish","family":"Suri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sirpa","family":"Ala-Mello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frits","family":"Beemer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Bernasconi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Bier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koen","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boyan","family":"Dimitrov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Firth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata C","family":"Gallagher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Livia","family":"Garavelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Gillessen-Kaesbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louanne","family":"Hudgins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"K\u00e4\u00e4ri\u00e4inen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Karstens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"Krantz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anca","family":"Mannhardt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Livija","family":"Medne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"M\u00fccke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Kibaek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lotte Nylandsted","family":"Krogh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maarit","family":"Peippo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olaf","family":"Rittinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Solveig","family":"Schulz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"L Schelley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I Karen","family":"Temple","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nick R","family":"Dennis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjo S","family":"Van der Knaap","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Wheeler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baruch","family":"Yerushalmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heide","family":"Seidel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Lachmeijer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trine","family":"Prescott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelia","family":"Kraus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R Brian","family":"Lowry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2005.01.003_bib1","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1086\/324342","article-title":"Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures","volume":"69","author":"Amiel","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib2","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/j.nbd.2003.10.004","article-title":"Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the \"Mowat\u2013Wilson\" syndrome","volume":"15","author":"Bassez","year":"2004","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ejmg.2005.01.003_bib3","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1093\/hmg\/10.14.1503","article-title":"Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease","volume":"10","author":"Cacheux","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib4","doi-asserted-by":"crossref","first-page":"e16","DOI":"10.1136\/jmg.2003.009548","article-title":"Mowat\u2013Wilson Syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity","volume":"41","author":"Cerruti Mainardi","year":"2004","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib5","series-title":"The Metabolic and Molecular Bases of Inherited Disease","article-title":"The nature and mechanisms of human gene mutation","author":"Cooper","year":"2000"},{"key":"10.1016\/j.ejmg.2005.01.003_bib6","first-page":"245","article-title":"Efficient detection of heterozygous intragenic ZFHX1B deletions by semi-quantitative fluorescent multiplex PCR improves molecular diagnosis of Mowat\u2013Wilson Syndrome","volume":"12","author":"Dastot-Le Moal","year":"2004","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib7","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/S0925-4773(02)00062-X","article-title":"Expression of the SMADIP1 gene during early human development","volume":"114","author":"Espinosa-Parrilla","year":"2002","journal-title":"Mech. Dev."},{"key":"10.1016\/j.ejmg.2005.01.003_bib8","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/ajmg.a.10855","article-title":"Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat\u2013Wilson Syndrome","volume":"116A","author":"Garavelli","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib9","article-title":"Genitourinary Anomalies are frequent in Mowat\u2013Wilson Syndrome with deletion\/mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B): report of 3 Italian cases with hypospadias and review","author":"Garavelli","year":"2004","journal-title":"Horm. Res."},{"key":"10.1016\/j.ejmg.2005.01.003_bib10","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/ajmg.a.30312","article-title":"Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21","volume":"131A","author":"Gregory-Evans","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib11","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/ajmg.a.20298","article-title":"Facial phenotype allows diagnosis of Mowat\u2013Wilson Syndrome in the absence of Hirschsprung disease","volume":"124A","author":"Horn","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib12","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1136\/jmg.2003.016154","article-title":"Clinical and molecular analysis of Mowat\u2013Wilson Syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1","volume":"41","author":"Ishihara","year":"2004","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib13","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1097\/00019605-200107000-00001","article-title":"Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children","volume":"10","author":"Kaariainen","year":"2001","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2005.01.003_bib14","first-page":"11","article-title":"Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature","volume":"5","author":"Lurie","year":"1994","journal-title":"Genet. Couns."},{"key":"10.1016\/j.ejmg.2005.01.003_bib15","doi-asserted-by":"crossref","first-page":"1745","DOI":"10.1093\/emboj\/19.8.1745","article-title":"Transcriptional control by the TGF-beta\/Smad signaling system","volume":"19","author":"Massague","year":"2000","journal-title":"EMBO J."},{"key":"10.1016\/j.ejmg.2005.01.003_bib16","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1136\/jmg.35.8.617","article-title":"Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23","volume":"35","author":"Mowat","year":"1998","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib17","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1136\/jmg.40.5.305","article-title":"Mowat\u2013Wilson Syndrome","volume":"40","author":"Mowat","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib18","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1055\/s-2003-44671","article-title":"Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat\u2013Wilson Syndrome)","volume":"34","author":"Sztriha","year":"2003","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejmg.2005.01.003_bib19","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/sj.ejhg.5200920","article-title":"A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN\/HNPP","volume":"11","author":"Thiel","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib20","doi-asserted-by":"crossref","first-page":"26135","DOI":"10.1074\/jbc.M300597200","article-title":"Interaction between Smad-interacting protein-1 and the corepressor C-terminal binding protein is dispensable for transcriptional repression of E-cadherin","volume":"278","author":"van Grunsven","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2005.01.003_bib21","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/86860","article-title":"Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease","volume":"27","author":"Wakamatsu","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib22","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/ajmg.a.20053","article-title":"Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B","volume":"119A","author":"Wilson","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib23","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1086\/324343","article-title":"Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features","volume":"69","author":"Yamada","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib24","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1212\/01.WNL.0000034842.78350.4E","article-title":"Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B","volume":"59","author":"Yoneda","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2005.01.003_bib25","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ajmg.10226","article-title":"\"Mowat\u2013Wilson\" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene","volume":"108","author":"Zweier","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2005.01.003_bib26","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1136\/jmg.40.8.601","article-title":"Characterisation of deletions of the ZFHX1B region and genotype\u2013phenotype analysis in Mowat\u2013Wilson Syndrome","volume":"40","author":"Zweier","year":"2003","journal-title":"J. Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972120500008X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972120500008X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:34:14Z","timestamp":1761708854000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972120500008X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["S176972120500008X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2005.01.003","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2005,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and Mutational Spectrum of Mowat\u2013Wilson Syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2005.01.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2005 Elsevier SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}