Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C

Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting i...

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Main Authors: Gripp, Karen W., Hopkins, Elizabeth, Sol-Church, Katia, Stabley, Deborah L., Axelrad, Marni E., Doyle, Daniel, Dobyns, William B., Hudson, Cindy, Johnson, John, Tenconi, Romano, Graham, Gail E., Sousa, Ana Berta, Heller, Raoul, Piccione, Maria, Corsello, Giovanni, Herman, Gail E., Tartaglia, Marco, Lin, Angela E.
Format: Artigo
Language:Inglês
Published: 2011
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4166651/
https://ncbi.nlm.nih.gov/pubmed/21438134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33884
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