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A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update

Background: Gap junctions formed by connexins are channels on cytoplasm functioning in ion recycling and homeostasis. Some members of connexin family including connexin 31 are significant components in human skin and cochlea. In clinic, mutations of connexin 31 have been revealed as the cause of a r...

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Detalles Bibliográficos
Autores principales:	Gao, Yajuan, Zhang, Qianli, Zhang, Shiyu, Yang, Lu, Liu, Yaping, Liu, Yuehua, Wang, Tao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9168653/ https://www.ncbi.nlm.nih.gov/pubmed/35677558 http://dx.doi.org/10.3389/fgene.2022.797124

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