Functional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family

BACKGROUND: Loss-of-function mutations in interferon regulatory factor-6 (IRF6) are responsible for about 70% of cases of Van Der Woude Syndrome (VWS), an autosomal dominant developmental disorder characterized by pits and/or sinuses of the lower lip and cleft lip, cleft palate, or both. METHODS: We...

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Detalles Bibliográficos
Autores principales: Zhang, Mengqi, Zhang, Jieni, Zhao, Huaxiang, Ievlev, Vitaly, Zhong, Wenjie, Huang, Wenbin, Cornell, Robert A., Lin, Jiuxiang, Chen, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289175/
https://www.ncbi.nlm.nih.gov/pubmed/32582293
http://dx.doi.org/10.3389/fgene.2020.00562

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