Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues. (12th November 2014)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: American journal of medical genetics. Volume 167:Number 1(2015:Jan.)
• Page Start: 1
• Page End: 10
• Publication Date: 2014-11-12
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36793
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36793-sec-0001" sec-type="section"> <p>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.</p> </sec> </abstract>