Article
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
European journal of human genetics : EJHG - 1 May 2016
Joyce Sarah, Gordon Kristiana, Brice Glen, Ostergaard Pia, Nagaraja Rani, Short John, Moore Sandra, Mortimer Peter, Mansour Sahar
Abstract excerpt
The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS-MAP kinase) pathway. The conditions overlap and are characterised by facial dysmorphism, short stature and congenital heart disease. NS and CFC, in particular, are...
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