Article
Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma.
The Journal of investigative dermatology - 1 Nov 2020
Mohamad Janan, Sarig Ofer, Malki Liron, Rabinowitz Tom, Assaf Sari, Malovitski Kiril, Shkury Eden, Mayer Talia, Vodo Dan, Peled Alon, Daniely Daniel, Pavlovsky Mor, Shomron Noam, Samuelov Liat, Sprecher Eli
Abstract excerpt
Inherited palmoplantar keratodermas 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 palmoplantar keratodermas manifesting with erythematous hyperkeratotic plaques over the palms and soles, extending to...
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