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July 1, 2001Human Molecular GeneticsOpen Access

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

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VCV. CacheuxLaboratoire de Biologie du Développement

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V. Cacheux (2001) studied this question.

synapsesocial.com/papers/6a6ff2218031ec7bb1dc05dbhttps://doi.org/10.1093/hmg/10.14.1503
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1High-Resolution Mapping of Human Chromosome 11 by in Situ Hybridization with Cosmid Clones1990 · 1,343 citations
  2. 2Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.1998 · 85 citations
  3. 3A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect ofEDN3/EDNRB gene mutations on neurocristopathy phenotypes?2001 · 57 citations