A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene

A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene

Abstract GJB2 and GJB6 variants, encoding Cx26 and Cx30 respectively, are the most frequently involved genes commonly contributing to hereditary hearing loss either isolated or in combination with skin abnormalities. GJB6 variations are classically associated with two distinct conditions: non‐syndro...

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Bibliographic Details
Main Authors: Badreddine Elmakhzen, Paul Rollier, Clémence Saillard, Benoit Godey, Cédric Le Marechal, Paul Gueguen, Isabelle Fajardy, Sylvie Odent, Laurent Pasquier
Format: Article
Language:English
Published: Wiley 2025-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
GJB6 gene
palmoplantar keratoderma
syndromic hearing loss
Online Access:https://doi.org/10.1002/mgg3.2474
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https://doi.org/10.1002/mgg3.2474

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