Article
Fine mapping of the 9q31 Hirschsprung's disease locus.
Human genetics - 1 Jun 2010
Tang C S, Sribudiani Y, Miao X P, de Vries A R, Burzynski G, So M T, Leon Y Y, Yip B H, Osinga J, Hui K J W S, Verheij J B G M, Cherny S S, Tam P K H, Sham P C, Hofstra R M W, Garcia-Barceló M M
Abstract excerpt
Hirschsprung's disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths of the intestine. The RET gene is the major HSCR gene. Reduced penetrance of RET mutations and phenotypic variability suggest the involvement of additional modifying genes in the disease. A RET-dependent modifier locus was mapped to 9q31 in families bearing no coding sequence (CDS) RET mutations....
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