Novel Biallelic RIPK4 Mutations Cause Ectodermal Dysplasia with Cutaneous Syndactyly

    Paola Fortugno, Rosanna Monetta, Francesco Angelucci … Francesco Brancati
    Studysummary This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
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