Article
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
Human mutation - 1 Aug 2007
de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis S E, Attie-Bitach T, Beales P L, Blouin J-L, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J
Abstract excerpt
Hirschsprung disease (HSCR) stands as a model for genetic dissection of complex diseases. In this model, a major gene, RET, is involved in most if not all cases of isolated (i.e., nonsyndromic) HSCR, in conjunction with other autosomal susceptibility loci under a multiplicative model. HSCR susceptibility alleles can harbor either heterozygous coding sequence mutations or, more frequently, a polymorphism within...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.