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Longitudinal Course of Cognitive, Adaptive and Behavioral Characteristics in Costello Syndrome

Costello syndrome is a rare rasopathy, caused by germline mutations in the oncogene HRAS resulting in increased signal transduction through the Ras/mitogen activated protein kinase pathway. In contrast to the more common rasopathies, such as neurofibromatosis type 1 and Noonan syndrome, limited info...

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Main Authors: Axelrad, Marni E., Schwartz, David D., Fehlis, Julie, Hopkins, Elizabeth, Stabley, Deborah L., Church, Katia Sol, Gripp, Karen W.
格式: Artigo
語言:Inglês
出版: 2009
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2787985/
https://ncbi.nlm.nih.gov/pubmed/19919001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33126
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