A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family

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 hypoplasi...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10567209/
https://www.ncbi.nlm.nih.gov/pubmed/37829154
http://dx.doi.org/10.1155/2023/9999660

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