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Article

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

American journal of medical genetics. Part A - 1 May 2017

Bertola Débora, Buscarilli Michelle, Stabley Deborah L, Baker Laura, Doyle Daniel, Bartholomew Dennis W, Sol-Church Katia, Gripp Karen W

Abstract excerpt

Costello syndrome is part of the RASopathies, a group of neurocardiofaciocutaneous syndromes caused by deregulation of the RAS mitogen-activated protein kinase pathway. Heterozygous mutations in HRAS are responsible for Costello syndrome, with more than 80% of the patients harboring the specific p.Gly12Ser variant. These individuals show a homogeneous phenotype. The clinical characteristics of the Costello...

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Identifiers

PMID: 28371260
DOI: 10.1002/ajmg.a.38178
PMCID: PMC5397353

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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