Article

Size matters: large copy number losses reveal novel Hirschsprung disease genes

2020-11-04

Abstract excerpt

<h4>Background</h4> Hirschsprung disease (HSCR) is characterized by absence of ganglia in the intestine. Approximately 18% of patients have additional anatomical malformations or neurological symptoms (HSCR-AAM). HSCR is a complex genetic disease in which the loss of enteric ganglia stems from a combination of genetic alterations: rare coding variants, predisposing haplotypes and Copy Number Variation (CNV). Pinpo...

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Literature Corpus work: 724245c6-9b58-5c05-8dcf-3e8753ee818d
DOI: 10.1101/2020.11.02.20221481

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