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Article

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

American journal of medical genetics. Part A - 1 Jul 2015

Bourchany A, Giurgea I, Thevenon J, Goldenberg A, Morin G, Bremond-Gignac D, Paillot C, Lafontaine P O, Thouvenin D, Massy J, Duncombe A, Thauvin-Robinet C, Masurel-Paulet A, Chehadeh S El, Huet F, Bron A, Creuzot-Garcher C, Lyonnet S, Faivre L

Abstract excerpt

Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes fo...

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Identifiers

PMID: 25899569
DOI: 10.1002/ajmg.a.36898

Genes

ZEB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25899569-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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