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Article

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

Journal of medical genetics - 1 May 2006

Kerr B, Delrue M-A, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden O B, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G

Abstract excerpt

BACKGROUND: Costello syndrome (CS) is a rare multiple congenital abnormality syndrome, associated with failure to thrive and developmental delay. One of the more distinctive features in childhood is the development of facial warts, often nasolabial and in other moist body surfaces. Individuals with CS have an increased risk of malignancy, suggested to be about 17%. Recently, mutations in the HRAS gene on...

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Source

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Identifiers

PMID: 16443854
DOI: 10.1136/jmg.2005.040352
PMCID: PMC2564514

Genes

HRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.PMID 16443854Read ↗

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