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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Veröffentlicht in:	PLoS genetics 2021-08, Vol.17 (8), p.e1009698-e1009698
Hauptverfasser:	Kuil, Laura E, MacKenzie, Katherine C, Tang, Clara S, Windster, Jonathan D, Le, Thuy Linh, Karim, Anwarul, de Graaf, Bianca M, van der Helm, Robert, van Bever, Yolande, Sloots, Cornelius E. J, Meeussen, Conny, Tibboel, Dick, de Klein, Annelies, Wijnen, René M. H, Amiel, Jeanne, Lyonnet, Stanislas, Garcia-Barcelo, Maria-Mercè, Tam, Paul K. H, Alves, Maria M, Brooks, Alice S, Hofstra, Robert M. W, Brosens, Erwin
Format:	Artikel
Sprache:	eng
Schlagworte:	Biology and Life Sciences Coding Congenital diseases Copy number Copy number variations CRISPR Cystic fibrosis Danio rerio Disease Enteric nervous system Epistasis Etiology Ganglia Gene expression Genetic aspects Genomes Haplotypes Health aspects Health risk assessment Hirschsprung's disease Intestine Intestine, Small Medicine and Health Sciences Mutation Nervous system Nervous system, Autonomic Neural coding Patients Research and Analysis Methods Transcriptomes
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