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Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues

Rauen, Katherine A., Huson, Susan M., Burkitt-Wright, Emma, Evans, D. Gareth, Farschtschi, Said, Ferner, Rosalie E., Gutmann, David H., Hanemann, C. Oliver, Kerr, Bronwyn, Legius, Eric, Parada, Luis F., Patton, Michael, Peltonen, Juha, Ratner, Nancy, Riccardi, Vincent M., van der Vaart, Thijs, Vikkula, Miikka, Viskochil, David H., Zenker, Martin and Upadhyaya, Meena 2014. Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues. American Journal of Medical Genetics Part A 167 (1) , pp. 1-10. 10.1002/ajmg.a.36793

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Abstract

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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: capillary malformation–AV malformation syndrome; cardio-facio-cutaneous syndrome; Costello syndrome; neurofibromatosis; Noonan syndrome; Legius syndrome; Ras/MAPK; signal transduction pathway; RASopathy; therapy
Publisher: Wiley and Blackwell
ISSN: 1552-4825
Date of Acceptance: 28 August 2014
Last Modified: 11 Jun 2019 13:03
URI: http://orca.cf.ac.uk/id/eprint/84826

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