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The RASopathies

22 Jul 2013

Abstract excerpt

The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation-arteriovenous malformation syndrome, Costello syndrome,...

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PMID: 23875798
DOI: 10.1146/annurev-genom-091212-153523

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