An uncommon condition may provide insight into a common problem

Our understanding of genetic syndromes continues to grow, including those of the large group called RASopathies. These clinical syndromes have some phenotypic overlap and include Noonan syndrome, neurofibromatosis type 1, cardio-facio-cutaneous syndrome, and Costello syndrome. Although the conditions are varied, all of these syndromes are caused by germline mutations in genes related to components of or regulation of the RAS/MAPK pathways. These signal transduction pathways control cell proliferation, differentiation, and survival.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: The Editors' Perspectives Source Type: research