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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2013
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Research Article
Accesso online: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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