Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease

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 assoc...

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Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2013
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3646051/
https://ncbi.nlm.nih.gov/pubmed/23671607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0062519
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