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Article

Costello syndrome and related disorders.

Current opinion in pediatrics - 1 Dec 2007

Quezada Emilio, Gripp Karen W

Abstract excerpt

PURPOSE OF REVIEW: Costello syndrome is a rare congenital disorder affecting multiple organ systems, encompassing severe failure to thrive, cardiac anomalies including hypertrophic cardiomyopathy and atrial tachycardia, tumor predisposition, and cognitive impairment. Costello syndrome shares findings with cardio-facio-cutaneous syndrome and the diagnosis can be challenging. The discovery of gene mutations...

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Source

Identifiers

PMID: 18025929
DOI: 10.1097/MOP.0b013e3282f161dc

Genes

HRAS
BRAF
KRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Costello syndrome and related disorders.PMID 18025929Read ↗

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.Semantic proximity Read ↗

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.Semantic proximity Read ↗

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.Semantic proximity Read ↗

HRAS and the Costello syndrome.Semantic proximity Read ↗

Ras/MAPK syndromes and childhood hemato-oncological diseases.Semantic proximity Read ↗

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disordersSemantic proximity Read ↗

The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.Semantic proximity Read ↗

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndromeSemantic proximity Read ↗

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.Semantic proximity Read ↗

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.Semantic proximity Read ↗

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Semantic proximity Read ↗

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.Semantic proximity Read ↗

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