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Article

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

Anais brasileiros de dermatologia - 1 Jan 2000

Hajra Bibi, Abdullah, Bibi Nousheen, Syed Fibhaa, Ullah Asmat, Ahmad Wasim, Umm-E-Kalsoom

Abstract excerpt

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 NECTIN4 gene. OBJECTIVE: The main objective of the study was to identify the pathogenic sequence variant(s) for family screening...

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Identifiers

PMID: 37183149
DOI: 10.1016/j.abd.2022.07.009
PMCID: PMC10404504

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