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...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2021
Materias:	Genetics QH426-470
Acceso en línea:	https://doaj.org/article/1c07ad4d76c24f9488439c5f30f264c2
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

Sea el primero en dejar un comentario!

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

Ejemplares similares