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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372947/
https://www.ncbi.nlm.nih.gov/pubmed/34358225
http://dx.doi.org/10.1371/journal.pgen.1009698

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372947/
https://www.ncbi.nlm.nih.gov/pubmed/34358225
http://dx.doi.org/10.1371/journal.pgen.1009698

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