Article
Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.
PloS one - 1 Jan 2013
Jannot Anne-Sophie, Pelet Anna, Henrion-Caude Alexandra, Chaoui Asma, Masse-Morel Marine, Arnold Stacey, Sanlaville Damien, Ceccherini Isabella, Borrego Salud, Hofstra Robert M W, Munnich Arnold, Bondurand Nadège, Chakravarti Aravinda, Clerget-Darpoux Françoise, Amiel Jeanne, Lyonnet Stanislas
Abstract excerpt
Hirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. Association between Down syndrome and HSCR suggests that genetic factors that predispose to HSCR map to chromosome 21. To identify these additional factors, we performed a dose-dependent association study on chromosome 21 in Down syndrome patients with HSCR. Assessing 10,895 SNPs in 26 Caucasian cases and...
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