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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: BioMed Central 2019
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Research Article
Online Access: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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