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Longitudinal studies of cognitive and adaptive behavior functioning in glycoproteinoses

✍ Scribed by Horowitz, Lucia; Simensen, Richard; Pietris, Katie; Kimbrell, Gordon; Cathey, Sara

Book ID
123538413
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
80 KB
Volume
108
Category
Article
ISSN
1096-7192

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## Abstract 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 syndro