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Article

PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.

Pediatric cardiology - 1 Jan 2010

Jefferies John L, Belmont John W, Pignatelli Ricardo, Towbin Jeffrey A, Craigen William J

Abstract excerpt

Noonan syndrome is an autosomal dominant disease that manifests a wide variety of clinical characteristics. The syndrome is also associated with some cardiac defects. Half of all Noonan syndrome cases are caused by mutations in the PTPN11 gene, but only limited data are available regarding aortic...

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Share to Cardiomyopathy, Hypertrophic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dilatation, Pathologic

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Source

Identifiers

PMID: 19795160
DOI: 10.1007/s00246-009-9537-8

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19795160-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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