Article
FERMT1 promoter mutations in patients with Kindler syndrome.
Clinical genetics - 1 Sept 2015
Has C, Chmel N, Levati L, Neri I, Sonnenwald T, Pigors M, Godbole K, Dudhbhate A, Bruckner-Tuderman L, Zambruno G, Castiglia D
Abstract excerpt
Mutations in the FERMT1 gene, encoding the focal adhesion protein kindlin-1 underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with a phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer. The FERMT1 mutational spectrum comprises gross genomic deletions, splice site, nonsense, and frameshift mutations,...
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