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

doi:10.1371/journal.pgen.1009698

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Article

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

PLoS genetics - 1 Aug 2021

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

Abstract excerpt

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 have additional anatomical malformations or neurological symptoms (HSCR-AAM). Pinpointing the responsible culprits...

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PMID: 34358225
DOI: 10.1371/journal.pgen.1009698
PMCID: PMC8372947

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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