Article

Mowat-Wilson Syndrome: Distribution of Pathogenic Variants in ZEB2 Gene Domains and Regions Presents Challenges in Genetic Counseling

2026-07-13

Abstract excerpt

<h4>Background: </h4> Mowat-Wilson syndrome (MWS) is a complex neurodevelopmental and dysmorphic genetic disorder caused by heterozygous loss-of-function variants in the Zinc Finger E-Box Binding Homeobox 2 (ZEB2) gene. Methods & Objective: This comprehensive MWS study examined 301 ClinVar ZEB2 variants with 226 classified as pathogenic and 75 as likely or conflicting pathogenic including mutations, deletions,...

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Literature Corpus work: 12bb96af-ecd3-54d4-971d-a603e113d558
DOI: 10.20944/preprints202607.0860.v1

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