Article

<i>RET</i> enhancer haplotype-dependent remodeling of the human fetal gut development program

2022-07-27

Abstract excerpt

Hirschsprung disease (HSCR) is associated with deficiency of the receptor tyrosine kinase RET, resulting in loss of cells of the enteric nervous system (ENS) during fetal gut development. The major contribution to HSCR risk is from common sequence variants in RET enhancers with additional risk from rare coding variants in many genes. Here, we demonstrate that these RET enhancer variants specifically alter the hu...

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Literature Corpus work: 96f2f35d-3208-5a57-ae1e-1d1f32c34897
DOI: 10.1101/2022.07.26.501565

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