Related Experiment Video

Updated: May 16, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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

Badreddine Elmakhzen1,2, Paul Rollier1,3, Clémence Saillard4

  • 1Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France.

Molecular Genetics & Genomic Medicine
|May 15, 2025
PubMed

Keywords:
GJB6 genepalmoplantar keratodermasyndromic hearing loss

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