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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...
Autores principales: | Tian, Xinyuan, Zhang, Chuan, Zhou, Bingbo, Chen, Xue, Feng, Xuan, Zheng, Lei, Wang, Yupei, Hao, Shengju, Hui, Ling |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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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 |
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