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Article

PTPN11 mutations play a minor role in isolated congenital heart disease.

American journal of medical genetics. Part A - 15 Jul 2005

Weismann Constance G, Hager A, Kaemmerer H, Maslen C L, Morris Cynthia D, Schranz D, Kreuder J, Gelb B D

Abstract excerpt

PTPN11 missense mutations cause approximately 50% of Noonan syndrome, an autosomal dominant disorder presenting with various congenital heart defects, most commonly valvar pulmonary stenosis, and hypertrophic cardiomyopathy. Atrioventricular septal defects and coarctation of the aorta occur in 15% and 9%, respectively. The aim of this study was to determine if PTPN11 mutations exist in non-syndromic patients with...

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Share to Chromatography, High Pressure Liquid
Share to Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heart Septal Defects, Atrial

Share to Heart Septal Defects, Ventricular

Share to Intracellular Signaling Peptides and Proteins

Share to Introns

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to Protein Tyrosine Phosphatases

Source

Identifiers

PMID: 15940693
DOI: 10.1002/ajmg.a.30789

Genes

PTPN11

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.

Related research

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PTPN11 mutations play a minor role in isolated congenital heart disease.PMID 15940693Read ↗

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PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.Semantic proximity Read ↗

Noonan syndrome associated with hypoplastic left heart syndrome.Semantic proximity Read ↗

Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.Semantic proximity Read ↗

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.Semantic proximity Read ↗

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