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

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 deafness a...

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Detalles Bibliográficos
Autores principales: Bedoukian, Emma C., Rentas, Stefan, Skraban, Cara, Shao, Qing, Treat, James, Laird, Dale W., Sullivan, Kathleen E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077155/
https://www.ncbi.nlm.nih.gov/pubmed/33443819
http://dx.doi.org/10.1002/mgg3.1574

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