Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness

Dominant variants in the gap junction beta-2 (GJB2) gene may lead to various degrees of syndromic hearing loss (SHL) which is manifest as sensorineural hearing impairment and hyperproliferative epidermal disorders, including palmoplantar keratoderma with deafness (PPKDFN). So far, only a few GJB2 do...

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Detalles Bibliográficos
Autores principales: Tian, Xinyuan, Zhang, Chuan, Zhou, Bingbo, Chen, Xue, Feng, Xuan, Zheng, Lei, Wang, Yupei, Hao, Shengju, Hui, Ling
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/PMC9354265/
https://www.ncbi.nlm.nih.gov/pubmed/35938034
http://dx.doi.org/10.3389/fgene.2022.938639

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354265/
https://www.ncbi.nlm.nih.gov/pubmed/35938034
http://dx.doi.org/10.3389/fgene.2022.938639

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