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Article

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

American journal of medical genetics. Part A - 1 Apr 2011

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

Abstract excerpt

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 in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause...

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Identifiers

PMID: 21438134
DOI: 10.1002/ajmg.a.33884
PMCID: PMC4166651

Genes

HRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.PMID 21438134Read ↗

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

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