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- PMID: 25393061
- UKPMCID: 25393061
- DOI: 10.1002/ajmg.a.36793
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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; Upadhyaya, Meena
American journal of medical genetics. Part A. 2014;.
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Full-text held externally
- PMID: 25393061
- UKPMCID: 25393061
- DOI: 10.1002/ajmg.a.36793
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. © 2014 Wiley Periodicals, Inc.
Keyword(s)
Costello syndrome; Legius syndrome; Noonan syndrome; RASopathy; Ras/MAPK; capillary malformation-AV malformation syndrome; cardio-facio-cutaneous syndrome; neurofibromatosis; signal transduction pathway; therapy
Bibliographic metadata
- 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
- Upadhyaya, Meena