Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

Hirschsprung disease (HSCR) is a complex genetic disease characterized by absence of ganglia in the intestine. HSCR etiology can be explained by a unique combination of genetic alterations: rare coding variants, predisposing haplotypes and Copy Number Variation (CNV). Approximately 18% of patients h...

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Bibliographic Details
Main Authors: Laura E Kuil, Katherine C MacKenzie, Clara S Tang, Jonathan D Windster, Thuy Linh Le, Anwarul Karim, Bianca M de Graaf, Robert van der Helm, Yolande van Bever, Cornelius E J Sloots, Conny Meeussen, Dick Tibboel, Annelies de Klein, René M H Wijnen, Jeanne Amiel, Stanislas Lyonnet, Maria-Mercè Garcia-Barcelo, Paul K H Tam, Maria M Alves, Alice S Brooks, Robert M W Hofstra, Erwin Brosens
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2021-08-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1009698

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https://doi.org/10.1371/journal.pgen.1009698

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