Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Recent Developments in Neurofibromatoses (NF) and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues" chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies.

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American Journal of Medical Genetics. Part A
Erasmus MC: University Medical Center Rotterdam

Rauen, K., Huson, S. M., Burkitt Wright, E. M., Evans, G., Farschtschi, S., Ferner, R. E., … Upadhyaya, M. (2015). Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues. American Journal of Medical Genetics. Part A, 167(1), 1–10. doi:10.1002/ajmg.a.36793