RASopathy

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The RASopathies are developmental syndromes caused by germline mutations in genes that alter the Ras subfamily and Mitogen-activated protein kinases that control signal transduction, including:

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References[edit]

  1. ^ Schuhmacher AJ, Guerra C, Sauzeau V, Cañamero M, Bustelo XR, Barbacid M (June 2008). "A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition". J. Clin. Invest. 118 (6): 2169–79. doi:10.1172/JCI34385. PMC 2381749. PMID 18483625.