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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Udgivet i: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
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Research Article
Online adgang: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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