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

• Hoofdauteurs: Abida Akbar (Auteur), Claire Prince (Auteur), Chloe Payne (Auteur), James Fasham (Auteur), Wasim Ahmad (Auteur), Emma L. Baple (Auteur), Andrew H. Crosby (Auteur), Gaurav V. Harlalka (Auteur), Asma Gul (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2019-08-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...