Article

Variability in proliferative and migratory defects in Hirschsprung disease-associated <i>RET</i> pathogenic variants

2024-09-26

Abstract excerpt

Despite the extensive genetic heterogeneity of Hirschsprung disease (HSCR; congenital colonic aganglionosis) 72% of patients harbor pathogenic variants in 10 genes that form a gene regulatory network (GRN) controlling the development of the enteric nervous system (ENS). Among these genes, the receptor tyrosine kinase gene RET is the most significant contributor, accounting for pathogenic variants in 12%-50% of pat...

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Literature Corpus work: 1a378ac1-a606-59c6-80f7-2eedbeb8f060
DOI: 10.1101/2024.09.24.614825

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