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

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

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 NECT...

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Bibliographic Details
Main Authors: Bibi Hajra, Abdullah, Nousheen Bibi, Fibhaa Syed, Asmat Ullah, Wasim Ahmad, Umm-e-Kalsoom
Format: Article
Language:English
Published: Sociedade Brasileira de Dermatologia 2023-08-01
Series:Anais Brasileiros de Dermatologia
Subjects:
Ectodermal dysplasia
Palmoplantar keratoderma
Poliovirus Receptor Related-4
Nectin cell adhesion molecule-4
Ectodermal dysplasia syndactyly syndrome 1
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962023000500580&lng=en&tlng=en

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