Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation

Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto‐oncogene HRAS from the RAS/MAPK pathway, include failure‐to‐thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition t...

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Veröffentlicht in:	American journal of medical genetics. Part A 2017-05, Vol.173 (5), p.1342-1347
Hauptverfasser:	Pierpont, Mary Ella, Richards, Mary, Engel, W. Keith, Mendelsohn, Nancy J., Summers, C. Gail
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology Adult Cardiomyopathy Child Costello syndrome Costello Syndrome - complications Costello Syndrome - genetics Costello Syndrome - physiopathology Electroretinograms Genotype Germ-Line Mutation HRAS mutation Humans Intellectual disabilities Male MAP kinase Mutation Nystagmus Phenotype Proto-Oncogene Proteins p21(ras) - genetics Retina Retinal degeneration Retinal Dystrophies - complications Retinal Dystrophies - genetics Retinal Dystrophies - physiopathology Retinal Dystrophy
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