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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	Zhiyang Zhao, Renjie Cui, Haoshu Chi, Teng Wan, Duan Ma, Jin Zhang, Ming Cai
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Frontiers Media S.A. 2024-06-01
Sarja:	Frontiers in Genetics
Aiheet:	Van der Woude syndrome IRF6 TGFβ signaling pathway epigenetics orofacial clefts
Linkit:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1397410/full
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