Article
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Genetics research - 1 Jan 2023
Ali Ghazanfar, Sadia Sadia, Ain-Ul-Batool Syeda, Azeem Zahid, Awan Naheed Bashir, Kazmi Syed Akif Raza, Ur-Rehman Zia-, Anjum Zeeshan, Ur-Rehman Fazal-, Wali Abdul, Khan Kafaitullah, Zaman Nasib, Ayub Muhammad, Sajid Muhammad, Hassan Noor
Abstract excerpt
EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri...
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