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Costello Syndrome: Clinical Phenotype, Genotype, and Management Guidelines

Karen W. Gripp, Lindsey A. Morse,Marni Axelrad,Kathryn C. Chatfield,Aaron Chidekel,William Dobyns,Daniel Doyle,Bronwyn Kerr,Angela E. Lin,David D. Schwartz,Barbara J. Sibbles,Dawn Siegel,Suma P. Shankar,David A. Stevenson,Mihir M. Thacker,K. Nicole Weaver,Sue M. White,Katherine A. Rauen

American journal of medical genetics Part A（2019）

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关键词
Costello syndrome,HRAS mutation,management guidelines,RAS,MAPK,RASopathy
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