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Am J Med Genet A. 2010 Jan;152A(1):4-24. doi: 10.1002/ajmg.a.33183.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

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  • 1University of California San Francisco, San Francisco, California, USA. rauenk@peds.ucsf.edu

Abstract

The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap in phenotypic features and includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back" chronicle the timely and typical research symposium which brought together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras syndromes and their families. The goals, to discuss basic science and clinical issues, to set forth a solid framework for future research, to direct translational applications towards therapy and to set forth best practices for individuals with RASopathies were successfully meet with a commitment to begin to move towards clinical trials.

PMID:
20014119
[PubMed - indexed for MEDLINE]
PMCID:
PMC4051786
Free PMC Article
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