Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

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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Autores principales: Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, Asma Chaoui, Marine Masse-Morel, Stacey Arnold, Damien Sanlaville, Isabella Ceccherini, Salud Borrego, Robert M W Hofstra, Arnold Munnich, Nadège Bondurand, Aravinda Chakravarti, Françoise Clerget-Darpoux, Jeanne Amiel, Stanislas Lyonnet
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2013
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/be655f622d9a471dba04553323858f20
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