Article
Clinical manifestations of mutations in RAS and related intracellular signal transduction factors.
Current opinion in pediatrics - 1 Aug 2011
Zenker Martin
Abstract excerpt
PURPOSE OF REVIEW: Recent advances in molecular genetic research have led to the definition of the new group of genetic syndromes, the RAS-mitogen-activated protein kinase (MAPK) pathway disorders or 'RASopathies'. They comprise Noonan syndrome and related disorders (cardio-facio-cutaneous and Costello syndromes), as well as neurofibromatosis type 1. This review summarizes the recent literature with a special...
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