A novel IRF6 gene mutation impacting the regulation of TGFβ2-AS1 in the TGFβ pathway: A mechanism in the development of Van der Woude syndrome

Several mutations in the IRF6 gene have been identified as a causative link to VWS. In this investigation, whole-exome sequencing (WES) and Sanger sequencing of a three-generation pedigree with an autosomal-dominant inheritance pattern affected by VWS identified a unique stop-gain mutation—c.748C&gt...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Zhiyang Zhao, Renjie Cui, Haoshu Chi, Teng Wan, Duan Ma, Jin Zhang, Ming Cai
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2024-06-01
Colecção:	Frontiers in Genetics
Assuntos:	Van der Woude syndrome IRF6 TGFβ signaling pathway epigenetics orofacial clefts
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1397410/full
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!