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Article

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

American journal of medical genetics. Part A - 1 Jan 2006

Estep Anne L, Tidyman William E, Teitell Michael A, Cotter Philip D, Rauen Katherine A

Abstract excerpt

Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and skeletal anomalies, and a predisposition to develop neoplasia. Based on similarities with other cancer syndromes, we previously hypothesized that CS is likely due to activation of signal transduction through the Ras/MAPK pathway [Tartaglia et al., 2003]. In...

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PMID: 16372351
DOI: 10.1002/ajmg.a.31078

Genes

HRAS

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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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HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.PMID 16372351Read ↗

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Germline mutations in HRAS proto-oncogene cause Costello syndrome.Semantic proximity Read ↗

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.Semantic proximity Read ↗

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