{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:33:45Z","timestamp":1761514425406,"version":"3.40.5"},"reference-count":36,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,7,19]],"date-time":"2019-07-19T00:00:00Z","timestamp":1563494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["Centre for Research Excellence in Neurocognitive D"],"award-info":[{"award-number":["Centre for Research Excellence in Neurocognitive D"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mowat\u2010Wilson syndrome (MWS) is a complex genetic disorder associated with heterozygous variation in <jats:italic>ZEB2<\/jats:italic>. It is mainly characterized by moderate\u2010to\u2010severe intellectual disability, facial dysmorphism, epilepsy, and various malformations including Hirschsprung disease, corpus callosum anomalies, and congenital heart defects. It is rarely diagnosed prenatally and there is limited information available on the prenatal phenotype associated with MWS. Here we report the detection of a heterozygous <jats:italic>de novo<\/jats:italic> nonsense variant in <jats:italic>ZEB2<\/jats:italic> by whole exome sequencing in a fetus with microphthalmia in addition to cardiac defects and typical MWS facial dysmorphism. As the prenatal phenotypic spectrum of MWS expands, the routine addition of fetal genomic testing particularly in the presence of multiple malformations will increase both the sensitivity and specificity of prenatal diagnostics.<\/jats:p>","DOI":"10.1002\/ajmg.a.61295","type":"journal-article","created":{"date-parts":[[2019,7,19]],"date-time":"2019-07-19T09:12:36Z","timestamp":1563527556000},"page":"2152-2157","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Fetal diagnosis of Mowat\u2010Wilson syndrome by whole exome sequencing"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5575-430X","authenticated-orcid":false,"given":"Carey\u2010Anne","family":"Evans","sequence":"first","affiliation":[{"name":"Neuroscience Research Australia (NeuRA)  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason","family":"Pinner","sequence":"additional","affiliation":[{"name":"Centre for Clinical Genetics, Sydney Children's Hospital, Randwick  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng Y.","family":"Chan","sequence":"additional","affiliation":[{"name":"New South Wales Health Pathology, Prince of Wales Hospital  Randwick New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucy","family":"Bowyer","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine, Royal Hospital for Women  Randwick New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Mowat","sequence":"additional","affiliation":[{"name":"Centre for Clinical Genetics, Sydney Children's Hospital, Randwick  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael F.","family":"Buckley","sequence":"additional","affiliation":[{"name":"New South Wales Health Pathology, Prince of Wales Hospital  Randwick New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tony","family":"Roscioli","sequence":"additional","affiliation":[{"name":"Neuroscience Research Australia (NeuRA)  Sydney New South Wales Australia"},{"name":"Centre for Clinical Genetics, Sydney Children's Hospital, Randwick  Sydney New South Wales Australia"},{"name":"New South Wales Health Pathology, Prince of Wales Hospital  Randwick New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,19]]},"reference":[{"volume-title":"GeneReviews([R])","year":"1993","author":"Adam M. 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