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Article

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.

Nature genetics - 1 Apr 2001

Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M

Abstract excerpt

Hirschsprung disease (HSCR) is sometimes associated with a set of characteristics including mental retardation, microcephaly, and distinct facial features, but the gene mutated in this condition has not yet been identified. Here we report that mutations in SIP1, encoding Smad interacting protein-...

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PMID: 11279515
DOI: 10.1038/86860

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11279515-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.PMID 11279515Read ↗

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Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): Confirmation of the Mowat‐Wilson syndromeSemantic proximity Read ↗

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