Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.

We present the genetic analyses conducted on a three-generation family (14 individuals) with three members affected with isolated-Hirschsprung disease (HSCR) and one with HSCR and heterochromia iridum (syndromic-HSCR), a phenotype reminiscent of Waardenburg-Shah syndrome (WS4). WS4 is characterized...

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Autors principals: Long Cui, Emily Hoi-Man Wong, Guo Cheng, Manoel Firmato de Almeida, Man-Ting So, Pak-Chung Sham, Stacey S Cherny, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science (PLoS) 2013-01-01
Col·lecció:PLoS ONE
Accés en línia:http://europepmc.org/articles/PMC3694150?pdf=render
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