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Article

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient.

Journal of applied genetics - 1 Jan 2010

Smigiel R, Szafranska A, Czyzewska M, Rauch A, Zweier Ch, Patkowski D

Abstract excerpt

We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZE...

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Source

Identifiers

PMID: 20145308
DOI: 10.1007/BF03195718

Genes

ARHGAP15
KYNU
ZEB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20145308-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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