Journal
NATURE GENETICS
Volume 27, Issue 4, Pages 369-370Publisher
NATURE AMERICA INC
DOI: 10.1038/86860
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Hirschsprung disease (HSCR) is sometimes associated with a set of characteristics including mental retardation, microcephaly, and distinct facial features(1-3), but the gene mutated in this condition has not yet been identified. Here we report that mutations in SIP1, encoding Smad interacting protein-1, cause disease in a series of cases. SIP1 is located in the deleted segment at 2q22 from a patient with a de novo t(2;13)(q22;q22) translocation, SIP1 seems to have crucial roles in normal embryonic neural and neural crest development.
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