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

Volume: 20, Issue: 1
Published: Aug 23, 2019
Abstract
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) a key molecular component for epidermal adhesion and differentiation. Mal de Meleda (MDM) is a rare inherited autosomal recessive genodermatosis characterized...
Paper Details
Title
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
Published Date
Aug 23, 2019
Volume
20
Issue
1
Citation AnalysisPro
  • Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
  • Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.