Loss-of-function variants in SERPINA12 underlie autosomal recessive palmoplantar keratoderma

Published: 23 December 2019| Version 1 | DOI: 10.17632/kr8y9nbs86.1
Contributor:
Ofer Sarig

Description

Inherited palmoplantar keratodermas (PPKs) refer to a large and heterogeneous group of conditions resulting from abnormal epidermal differentiation and featuring thickening of the skin of the palms and soles. Here, we aimed at delineating the genetic basis of an autosomal recessive form of PPK. We conducted whole exome sequencing (WES) in affected individual and healthy mother. This data set includes the WES analysis results.

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Institutions

  • Tel Aviv Sourasky Medical Center

Categories

Genodermatosis

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