Article
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
The Journal of investigative dermatology - 1 Oct 2012
Pigors Manuela, Kiritsi Dimitra, Cobzaru Cristina, Schwieger-Briel Agnes, Suárez Jose, Faletra Flavio, Aho Heikki, Mäkelä Leeni, Kern Johannes S, Bruckner-Tuderman Leena, Has Cristina
Abstract excerpt
Acral peeling skin syndrome (APSS) is an autosomal recessive skin disorder characterized by acral blistering and peeling of the outermost layers of the epidermis. It is caused by mutations in the gene for transglutaminase 5, TGM5. Here, we report on clinical and molecular findings in 11 patients and extend the TGM5 mutation database by four, to our knowledge, previously unreported mutations: p.M1T, p.L41P,...
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