A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

• Main Authors: Bibi Hajra (Author), Abdullah (Author), Nousheen Bibi (Author), Fibhaa Syed (Author), Asmat Ullah (Author), Wasim Ahmad (Author), Umm- (Author)
• Format: Book
• Published: Sociedade Brasileira de Dermatologia, 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTI...