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Article

ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.

Journal of child neurology - 1 Jan 2015

Buraniqi Ersida, Moodley Manikum

Abstract excerpt

Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies. We report a 2-year-10-month-old white female with this syndrome caused by mutations in...

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Source

Identifiers

PMID: 25028418
DOI: 10.1177/0883073814535501

Genes

ZEB2

Provenance

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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