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Article

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

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

Calcagni Giulio, Baban Anwar, De Luca Enrica, Leonardi Benedetta, Pongiglione Giacomo, Digilio Maria Cristina

Abstract excerpt

Noonan syndrome (NS) is the second most frequent hereditary syndrome with cardiac involvement. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most prevalent cardiovascular abnormalities. We report on a 14-year-old girl with NS due to SOS1 mutation with pulmonary stenosis and idiopathic coronary ectasia. To the best of our knowledge, this is the first report describing coronary ectasia in a...

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Source

Identifiers

PMID: 26686981
DOI: 10.1002/ajmg.a.37505

Genes

SOS1

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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