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Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi

Hafner, Christian ; van Oers, Johanna M. M. ; Vogt, Thomas ; Landthaler, Michael ; Stoehr, Robert ; Blaszyk, Hagen ; Hofstaedter, Ferdinand ; Zwarthoff, Ellen C. ; Hartmann, Arndt


Epidermal nevi are common congenital skin lesions with an incidence of 1 in 1,000 people; however, their genetic basis remains elusive. Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be associated with acanthosis nigricans of the skin. Acanthosis nigricans and common epidermal nevi of the ...


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