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

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

Abstract 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...

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Bibliographic Details
Main Authors: Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka, Asma Gul
Format: Article
Language:English
Published: BMC 2019-08-01
Series:BMC Medical Genetics
Subjects:
Mal de Meleda
Palmoplantar keratoderma
SLURP1
DSG1
Mutation
Variant
Online Access:http://link.springer.com/article/10.1186/s12881-019-0872-1

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