A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome
January 2023
in “
Indian dermatology online journal
”
Ectodermal Dysplasia-Syndactyly Syndrome 1 EDSS1 NECTIN4 gene nectin-4 hair morphogenesis hair cycling ectodermal organogenesis sparse hair brittle hair dry scalp hair nail dystrophy cutaneous syndactyly hair growth hair cycle skin development thin hair weak hair dry hair nail problems webbed fingers
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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