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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Detalles Bibliográficos
Autores principales: Cui, Long, Wong, Emily Hoi-Man, Cheng, Guo, Firmato de Almeida, Manoel, So, Man-Ting, Sham, Pak-Chung, Cherny, Stacey S., Tam, Paul Kwong-Hang, Garcia-Barceló, Maria-Mercè
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3694150/
https://www.ncbi.nlm.nih.gov/pubmed/23840513
http://dx.doi.org/10.1371/journal.pone.0066631

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3694150/
https://www.ncbi.nlm.nih.gov/pubmed/23840513
http://dx.doi.org/10.1371/journal.pone.0066631

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