A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome

    January 2023 in “ Indian dermatology online journal ”
    Francesca Caroppo, Laura Fagotto, AnnaBelloni Fortina
    Studysummary This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
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