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Article

RET enhancer haplotype-dependent remodeling of the human fetal gut development program

10 Nov 2023

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...

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PMID: 37948459
DOI: 10.1371/journal.pgen.1011030

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RET enhancer haplotype-dependent remodeling of the human fetal gut development programPMID 37948459Read ↗

<i>RET</i> enhancer haplotype-dependent remodeling of the human fetal gut development programSemantic proximity Read ↗

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