Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

Hirschsprung disease (HSCR) is a complex birth defect characterized by the lack of ganglion cells along a variable length of the distal intestine. A large proportion of HSCR patients remain genetically unexplained. We applied whole-genome sequencing (WGS) on 9 trios where the probands are sporadical...

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Publicat a:Eur J Hum Genet
Autors principals: Tang, Clara SM, Zhuang, Xuehan, Lam, Wai-Yee, Ngan, Elly Sau-Wai, Hsu, Jacob Shujui, Michelle, YU, Man-Ting, SO, Cherny, Stacey S, Ngo, Ngoc Diem, Sham, Pak C, Tam, Paul KH, Garcia-Barcelo, Maria-Mercè
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5974185/
https://ncbi.nlm.nih.gov/pubmed/29483666
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0129-z
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