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

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....

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Detalles Bibliográficos
Autores principales: Hajra, Bibi, Abdullah, Bibi, Nousheen, Syed, Fibhaa, Ullah, Asmat, Ahmad, Wasim, Umm-e-Kalsoom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10404504/
https://www.ncbi.nlm.nih.gov/pubmed/37183149
http://dx.doi.org/10.1016/j.abd.2022.07.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10404504/
https://www.ncbi.nlm.nih.gov/pubmed/37183149
http://dx.doi.org/10.1016/j.abd.2022.07.009

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