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- Title
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
- Authors
Siegel, D H; McKenzie, J; Frieden, I J; Rauen, K A
- Abstract
The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair.
- Publication
The British journal of dermatology, 2011, Vol 164, Issue 3, p521
- ISSN
1365-2133
- Publication type
Journal Article
- DOI
10.1111/j.1365-2133.2010.10122.x