Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.
Cacheux V; Dastot-Le Moal F; Kääriäinen H; Bondurand N; Rintala R; Boissier B; Wilson M; Mowat D; Goossens M; Human Molecular Genetics, 2001, vol. 10, issue 14, p 1503, ISSN 09646906. ISBN 09646906.

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