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Article

Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.

The British journal of dermatology - 1 Mar 2012

Siegel D H, Mann J A, Krol A L, Rauen K A

Abstract excerpt

BACKGROUND: The RASopathies are a class of human genetic syndromes caused by germline mutations in genes that encode protein components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Costello syndrome (CS) is a RASopathy caused by mutations in the HRAS gene, a key regulator of signal transduction. OBJECTIVE: To quantify the specific cutaneous phenotype observed in 46 individuals with Costello...

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Identifiers

PMID: 22098123
DOI: 10.1111/j.1365-2133.2011.10744.x
PMCID: PMC4063554

Genes

HRAS

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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