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Article

Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome.

American journal of medical genetics. Part A - 1 Dec 2009

Axelrad Marni E, Schwartz David D, Fehlis Julie E, Hopkins Elizabeth, Stabley Deborah L, Sol-Church Katia, Gripp Karen W

Abstract excerpt

Costello syndrome is a rare rasopathy caused by germline mutations in the oncogene HRAS resulting in increased signal transduction through the Ras/mitogen-activated protein kinase pathway. In contrast to the more common rasopathies, such as neurofibromatosis type 1 and Noonan syndrome, limited information is available on standardized cognitive testing in this cohort. Past research indicated a mean average IQ in...

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Source

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Identifiers

PMID: 19919001
DOI: 10.1002/ajmg.a.33126
PMCID: PMC2787985

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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