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Whole Genome Sequencing Reveals a <i>RET</i> Enhancer Risk Haplotype Associated with Hirschsprung Disease in Mowat Wilson Syndrome

2026-03-23

Abstract excerpt

<h4>ABSTRACT</h4> Mowat Wilson syndrome (MWS) is a rare neurodevelopmental disorder caused by mostly heterozygous loss-of-function variants in ZEB2 . Affected individuals show considerable wide variability in clinical presentation. In particular, Hirschsprung disease (HSCR) occurs in only a subset of patients, suggesting that additional genetic factors may modify disease penetrance. To investigate this possibili...

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Literature Corpus work
8eadd34f-eb36-5827-a497-acf3d1cd7ca0
DOI
10.64898/2026.03.19.26348831
Open publication

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Whole Genome Sequencing Reveals a <i>RET</i> Enhancer Risk Haplotype Associated with Hirschsprung Disease in Mowat Wilson SyndromeDOI 10.64898/2026.03.19.26348831
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