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Validation of the VACTERL Episignature and Evidence for Epigenomic Convergence Across Recurrent Constellations of Embryonic Malformations

2026-07-14

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Recurrent constellations of embryonic malformations (RCEMs) comprise multiple malformation conditions with largely unexplained etiologies and no established molecular biomarkers. A shared DNA methylation episignature was recently identified in VACTERL association and oculoauriculovertebral spectrum (OAVS). We sought to validate this episignature in an independent, deeply phe...

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Literature Corpus work
71eea45d-d620-5e23-a789-db8316ce9ff2
DOI
10.64898/2026.07.10.26357391
Open publication

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Validation of the VACTERL Episignature and Evidence for Epigenomic Convergence Across Recurrent Constellations of Embryonic MalformationsDOI 10.64898/2026.07.10.26357391
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