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

23 Aug 2019

Abstract excerpt

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) a key molecular component for epidermal adhesion and differentiation. Mal de Meleda (MDM) is a rare inherited...

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PMID: 31443639
DOI: 10.1186/s12881-019-0872-1

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Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani familiesPMID 31443639Read ↗

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