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Article

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

American journal of medical genetics. Part A - 1 Sept 2005

McGaughran Julie, Sinnott Stephen, Dastot-Le Moal Florence, Wilson Meredith, Mowat David, Sutton Bridget, Goossens Michel

Abstract excerpt

Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease. Heterozygous mutations or deletions involving the gene ZFHX1B (previously SIP1) [OMIM 605802] have...

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Identifiers

PMID: 16088920
DOI: 10.1002/ajmg.a.30896

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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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