Article
Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
Acta dermato-venereologica - 1 May 2011
Techanukul Tanasit, Sethuraman Gomathy, Zlotogorski Abraham, Horev Liran, Macarov Michal, Trainer Alison, Fong Kenneth, Lens Marko, Medenica Ljiljana, Ramesh Venkatesh, McGrath John A, Lai-Cheong Joey E
Abstract excerpt
Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affected individuals. The...
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