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Article

Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.

Ophthalmic genetics - 1 Sept 2012

Ariss Michelle, Natan Kristina, Friedman Neil, Traboulsi Elias I

Abstract excerpt

Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies. Ophthalmological abnormalities have been rarely described in patients with this condition which is caused by mutations in the ZEB2 gene. We report a 9-year-old female...

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Identifiers

PMID: 22486326
DOI: 10.3109/13816810.2011.610860

Genes

ZEB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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