Article
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
Proceedings of the National Academy of Sciences of the United States of America - 4 Jan 2000
Bolk S, Pelet A, Hofstra R M, Angrist M, Salomon R, Croaker D, Buys C H, Lyonnet S, Chakravarti A
Abstract excerpt
Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with approximately 50% of familial cases being heterozygous for mutations in the receptor tyrosine kinase RET. Even when identified, the penetrance of RET mutations is only 50-70%, gender-dependent, and varies with the...
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