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10.1002/ajmg.a.36793

http://scihub22266oqcxt.onion/10.1002/ajmg.a.36793
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C4275383!4275383!25393061
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suck abstract from ncbi


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pmid25393061      Am+J+Med+Genet+A 2015 ; 167 (1): 1-10
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  • Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues #MMPMID25393061
  • Rauen KA; Huson SM; Burkitt-Wright E; Evans DG; Farschtschi S; Ferner RE; Gutmann DH; Hanemann CO; Kerr B; Legius E; Parada LF; Patton M; Peltonen J; Ratner N; Riccardi VM; van der Vaart T; Vikkula M; Viskochil DH; Zenker M; Upadhyaya M
  • Am J Med Genet A 2015[Jan]; 167 (1): 1-10 PMID25393061show ga
  • Neurofibromatosis type 1 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 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.
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