Loading...

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...

Full description

Saved in:
Bibliographic Details
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
Subjects:
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
Tags: Add Tag
No Tags, Be the first to tag this record!