Article
Malignancy in Noonan syndrome and related disorders.
Clinical genetics - 1 Dec 2015
Smpokou P, Zand D J, Rosenbaum K N, Summar M L
Abstract excerpt
Noonan syndrome (NS) and related disorders, such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, and Costello syndrome, constitute an important group of developmental malformation syndromes with variable clinical and molecular features. Their underlying pathophysiologic mechanism involves dysregulation of the Ras/mitogen-activated protein kinase signaling pathway,...
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