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Article

Respiratory system involvement in Costello syndrome.

American journal of medical genetics. Part A - 1 Jul 2016

Gomez-Ospina Natalia, Kuo Christin, Ananth Amitha Lakshmi, Myers Angela, Brennan Marie-Luise, Stevenson David A, Bernstein Jonathan A, Hudgins Louanne

Abstract excerpt

Costello syndrome (CS) is a multisystem disorder caused by heterozygous germline mutations in the HRAS proto-oncogene. Respiratory system complications have been reported in individuals with CS, but a comprehensive description of the full spectrum and incidence of respiratory symptoms in these patients is not available. Here, we report the clinical course of four CS patients with respiratory complications as a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27102959
DOI: 10.1002/ajmg.a.37655
PMCID: PMC5509842

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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