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A New Syndromic Case of Hearing Loss and Ectodermal Anomalies Associated with a Recurrent Missense Variation in GJB6 Gene.

Badreddine Elmakhzen,Paul Rollier, Clémence Saillard, Benoit Godey,Cédric Le Marechal,Paul Gueguen, Isabelle Fajardy,Sylvie Odent,Laurent Pasquier

Molecular genetics & genomic medicine（2025）

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关键词
GJB6 gene,palmoplantar keratoderma,syndromic hearing loss
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