Mosaicism of activatingFGFR3 mutations in human skin causes epidermal nevi

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 associ...

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Detalhes bibliográficos
Main Authors: Hafner, Christian, van Oers, Johanna M.M., Vogt, Thomas, Landthaler, Michael, Stoehr, Robert, Blaszyk, Hagen, Hofstaedter, Ferdinand, Zwarthoff, Ellen C., Hartmann, Arndt
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2006
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1501112/
https://ncbi.nlm.nih.gov/pubmed/16841094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI28163
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