| Literature DB >> 8791480 |
Abstract
RET mutations have been identified as the underlying cause of two congenital diseases that predominately affect tissues of neural crest origin: the MEN 2 cancer syndromes and a proportion of cases of dominantly inherited Hirschsprung disease, a disorder of gut development. This review summarizes the disease-causing mutations and our present understanding of their possible effects on RET protein function.Entities:
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Year: 1996 PMID： 8791480 DOI： 10.1016/s0959-437x(96)90015-5
Source DB: PubMed Journal: Curr Opin Genet Dev ISSN： 0959-437X Impact factor: 5.578