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

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...

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Detalles Bibliográficos
Autores principales: Yang, Kai, Dong, Xing-Yue, Wu, Jue, Zhu, Jian-Jiang, Tan, Ya, Yan, You-Sheng, Lin, Li, Zhang, Dong-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7457716/
https://www.ncbi.nlm.nih.gov/pubmed/32945398
http://dx.doi.org/10.3892/mmr.2020.11365