Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant

Abstract Background Variants in the GJB2 gene encoding the gap junction protein connexin‐26 (Cx26) can cause autosomal recessive nonsyndromic hearing loss or a variety of phenotypically variable autosomal dominant disorders that effect skin and hearing, such as palmoplantar keratoderma (PPK) with de...

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Bibliographic Details
Main Authors: Emma C. Bedoukian, Stefan Rentas, Cara Skraban, Qing Shao, James Treat, Dale W. Laird, Kathleen E. Sullivan
Format: Article
Language:English
Published: Wiley 2021-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
connexin‐26
Cx26
deafness
gap junction
palmoplantar keratoderma
Online Access:https://doi.org/10.1002/mgg3.1574

Internet

https://doi.org/10.1002/mgg3.1574

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