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Article

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Human mutation - 1 Apr 2007

Dastot-Le Moal Florence, Wilson Meredith, Mowat David, Collot Nathalie, Niel Florence, Goossens Michel

Abstract excerpt

Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), genital anomalies, congenital heart disease (CHD),...

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Source

Identifiers

PMID: 17203459
DOI: 10.1002/humu.20452

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17203459-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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