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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Akbar, Abida, Prince, Claire, Payne, Chloe, Fasham, James, Ahmad, Wasim, Baple, Emma L., Crosby, Andrew H., Harlalka, Gaurav V., Gul, Asma
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6708247/
https://ncbi.nlm.nih.gov/pubmed/31443639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0872-1
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