Article
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Human mutation - 1 Nov 2011
Has Cristina, Castiglia Daniele, del Rio Marcela, Diez Marta Garcia, Piccinni Eugenia, Kiritsi Dimitra, Kohlhase Jürgen, Itin Peter, Martin Ludovic, Fischer Judith, Zambruno Giovanna, Bruckner-Tuderman Leena
Abstract excerpt
Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer. Herein we review the clinical and genetic data of 62 patients, and...
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