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Article

A clinical and multi‑omics study of Van der Woude syndrome in three generations of a Chinese family.

Molecular medicine reports - 1 Oct 2020

Yang Kai, Dong Xing-Yue, Wu Jue, Zhu Jian-Jiang, Tan Ya, Yan You-Sheng, Lin Li, Zhang Dong-Liang

Abstract excerpt

Previous studies have suggested that pathogenic variants in interferon regulatoryse factor 6 (IRF6) can account for almost 70% of familial Van der Woude Syndrome (VWS) cases. However, gene modifiers that account for the phenotypic variability of IRF6 in the context of VWS remain poorly characterized. The aim of this study was to report a family with VWS with variable expressivity and to identify the genetic...

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Identifiers

PMID: 32945398
DOI: 10.3892/mmr.2020.11365
PMCID: PMC7457716

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