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Article

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1

30 Apr 2004

Abstract excerpt

irschsprung disease (HSCR), a clinically complex syndrome often associated with a combination of mental retardation, microcephaly, and characteristic facial features, is genetically heterogeneous. 1-10 Recently, mutations in ZFHX1B, which encodes Smad-interacting protein 1 (SIP1), were identified by our group 11 and Cacheux et al 12 in patients with t(2;13)(q22;q22) and t(2;11)(q22.2;q21), respectively. These...

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Identifiers

PMID: 15121779
DOI: 10.1136/jmg.2003.016154

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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