Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

BACKGROUND: Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal intestine. Previous studies that have searched for genes underlying HSCR have...

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Detalhes bibliográficos
Publicado no:Genome Biol
Main Authors: Gui, Hongsheng, Schriemer, Duco, Cheng, William W., Chauhan, Rajendra K., Antiňolo, Guillermo, Berrios, Courtney, Bleda, Marta, Brooks, Alice S., Brouwer, Rutger W. W., Burns, Alan J., Cherny, Stacey S., Dopazo, Joaquin, Eggen, Bart J. L., Griseri, Paola, Jalloh, Binta, Le, Thuy-Linh, Lui, Vincent C. H., Luzón-Toro, Berta, Matera, Ivana, Ngan, Elly S. W., Pelet, Anna, Ruiz-Ferrer, Macarena, Sham, Pak C., Shepherd, Iain T., So, Man-Ting, Sribudiani, Yunia, Tang, Clara S. M., van den Hout, Mirjam C. G. N., van der Linde, Herma C., van Ham, Tjakko J., van IJcken, Wilfred F. J., Verheij, Joke B. G. M., Amiel, Jeanne, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Lyonnet, Stanislas, Tam, Paul K. H., Garcia-Barceló, Maria-Mercè, Hofstra, Robert M. W.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5343413/
https://ncbi.nlm.nih.gov/pubmed/28274275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-017-1174-6
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