Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

BACKGROUND: Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 genes have been reported to be associated with PPKs including desmoglein 1 (DSG1...

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Detalles Bibliográficos
Autores principales: Akbar, Abida, Prince, Claire, Payne, Chloe, Fasham, James, Ahmad, Wasim, Baple, Emma L., Crosby, Andrew H., Harlalka, Gaurav V., Gul, Asma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708247/
https://www.ncbi.nlm.nih.gov/pubmed/31443639
http://dx.doi.org/10.1186/s12881-019-0872-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708247/
https://www.ncbi.nlm.nih.gov/pubmed/31443639
http://dx.doi.org/10.1186/s12881-019-0872-1

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