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Article

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

American journal of medical genetics. Part A - 15 Jun 2003

Wilson Meredith, Mowat David, Dastot-Le Moal Florence, Cacheux Valère, Kääriäinen Helena, Cass Danny, Donnai Dian, Clayton-Smith Jill, Townshend Sharron, Curry Cynthia, Gattas Michael, Braddock Stephen, Kerr Bronwyn, Aftimos Salim, Zehnwirth Harry, Barrey Catherine, Goossens Michel

Abstract excerpt

Mutations or deletions involving ZFHX1B (previously SIP1) have recently been found to cause one form of syndromic Hirschsprung disease (HSCR), associated with microcephaly, mental retardation, and distinctive facial features. Patients with the characteristic facial phenotype and severe mental ret...

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PMID: 12784289
DOI: 10.1002/ajmg.a.20053

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12784289-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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