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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Pubblicato in:BMC Med Genet
Autori principali: Akbar, Abida, Prince, Claire, Payne, Chloe, Fasham, James, Ahmad, Wasim, Baple, Emma L., Crosby, Andrew H., Harlalka, Gaurav V., Gul, Asma
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
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Research Article
Accesso online: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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