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April-June 2016 | Vol. 9 | Issue 2 | Page No 5-14
The Clinical Spectrum of RASopathies
Divya Agarwal, Ratna D Puri, Achint Kaur, Sunita Bijarnia-Mahay and IC Verma
Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi
Address for Correspondence Email: dr.divya2512@gmail.com
The RASopathies are a specific group of genetic syndromes that occur as a result of germline mutations in genes encoding proteins of the Ras–mitogen-activated protein kinase (RAS–MAPK) pathway (Fig 1). These developmental disorders include Neurofibromatosis type 1 (NF1), the first RASopathy identified, followed by Noonan syndrome (NS), and a host of others including Noonan syndrome with multiple lentigines (NSML), capillary malformation–arteriovenous malformation syndrome (CM-AVM), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC) and Legius syndrome. The Ras-MAPK pathway is essential for signal transduction from the cell surface to the nucleus and plays a pivotal role in regulation of cellular
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