Article
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.
Nature genetics - 1 Aug 1993
Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fékété C, Briard M L, Mok-Siu V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, Romeo G
Abstract excerpt
Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic aganglionosis, and of a high-density genetic map of microsatellite DNA markers, we performed genetic linkage...
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