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Title
Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.
Authors
Siegel, D H; Mann, J A; Krol, A L; Rauen, K A
Abstract
The RASopathies are a class of human genetic syndromes caused by germline mutations in genes that encode protein components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Costello syndrome (CS) is a RASopathy caused by mutations in the HRAS gene, a key regulator of signal transduction.
Publication
The British journal of dermatology, 2012, Vol 166, Issue 3, p601