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

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

Anais brasileiros de dermatologia（2023）

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摘要

The present study expanded the phenotypic and mutation spectrum of the NECTIN4 gene. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.

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关键词

Ectodermal dysplasia, Palmoplantar keratoderma, Poliovirus Receptor Related-4, Nectin cell adhesion molecule-4, Ectodermal dysplasia syndactyly syndrome 1

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