Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.
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; Nature Genetics, 2001, vol. 27, issue 4, p 369, ISSN 10614036. ISBN 10614036.

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