Dermatological findings in 61 mutation‐positive individuals with cardiofaciocutaneous syndrome
Identifieur interne : 000768 ( Istex/Checkpoint ); précédent : 000767; suivant : 000769Dermatological findings in 61 mutation‐positive individuals with cardiofaciocutaneous syndrome
Auteurs : D. H. Siegel [États-Unis] ; J. Mckenzie [États-Unis] ; I. J. Frieden [États-Unis] ; K. A. Rauen [États-Unis]Source :
- British Journal of Dermatology [ 0007-0963 ] ; 2011-03.
Abstract
Background 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.
Url:
DOI: 10.1111/j.1365-2133.2010.10122.x
Affiliations:
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<front><div type="abstract">Background 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.</div>
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