Article
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease.
Nature genetics - 1 Oct 2002
Carrasquillo Minerva M, McCallion Andrew S, Puffenberger Erik G, Kashuk Carl S, Nouri Nassim, Chakravarti Aravinda
Abstract excerpt
Genetic studies of Hirschsprung disease, a common congenital malformation, have identified eight genes with mutations that can be associated with this condition. Mutations at individual loci are, however, neither necessary nor sufficient to cause clinical disease. We conducted a genome-wide association study in 43 Mennonite family trios using 2,083 microsatellites and single-nucleotide polymorphisms and a new...
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