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Title: First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics
Authors: Rauen, Katherine A
Alsaegh, Abeer
Ben-Shachar, Shay
Berman, Yemima
Blakeley, Jaishri
Cordeiro, Isabel
Elgersma, Ype
Evans, D Gareth
Fisher, Michael J
Frayling, Ian M
George, Joshi
Huson, Susan M
Kerr, Bronwyn
Khire, Uday
Korf, Bruce
Legius, Eric
Messiaen, Ludwine
van Minkelen, Rick
Nampoothiri, Sheela
Ngeow, Joanne
Parada, Luis F
Phadke, Shubha
Pillai, Ashok
Plotkin, Scott R
Puri, Ratna
Raji, Anup
Ramesh, Vijaya
Ratner, Nancy
Shankar, Suma P
Sharda, Sheetal
Tambe, Anant
Vikkula, Miikka
Widemann, Brigitte C
Wolkenstein, Pierre
Upadhyaya, Meena
Keywords: Science::Medicine
Issue Date: 2019
Source: Rauen, K. A., Alsaegh, A., Ben-Shachar, S., Berman, Y., Blakeley, J., Cordeiro, I., Elgersma, Y., Evans, D. G., Fisher, M. J., Frayling, I. M., George, J., Huson, S. M., Kerr, B., Khire, U., Korf, B., Legius, E., Messiaen, L., van Minkelen, R., Nampoothiri, S., ...Upadhyaya, M. (2019). First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics. First International Conference on RASopathies and Neurofibromatoses in Asia, 179, 1091-1097.
Abstract: The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. Due to their common underlying pathogenetic etiology, all these syndromes have significant phenotypic overlap of which one common feature include a predisposition to tumors, which may be benign or malignant. Together as a group, they represent one of the most common multiple congenital anomaly syndromes estimating to affect approximately one in 1000 individuals worldwide. The subcontinent of India represents one of the largest populations in the world, yet remains underserved from an aspect of clinical genetics services. In an effort to bridge this gap, the First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics was held in Kochi, Kerala, India. These proceedings chronicle this timely and topical international symposium directed at discussing the best practices and therapies for individuals with neurofibromatoses and RASopathies.
DOI: 10.1002/ajmg.a.61125
Rights: © 2019 Wiley Periodicals, Inc. All rights reserved.
Fulltext Permission: none
Fulltext Availability: No Fulltext
Appears in Collections:LKCMedicine Conference Papers

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