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Article

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.

European journal of medical genetics - 1 Jan 2000

Limongelli Giuseppe, Hawkes Lorraine, Calabro Raffaele, McKenna William J, Syrris Petros

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease and a major cause of sudden death. It is an autosomal dominant disorder predominantly caused by mutations in genes encoding for sarcomeric proteins. Only 50-60% of HCM probands have mutations in known genes suggesting the presence of additional disease genes. Noonan and LEOPARD syndromes are characterised by multiple dysmorphia and cardiac...

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Source

Identifiers

PMID: 16488201
DOI: 10.1016/j.ejmg.2006.01.003

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.PMID 16488201Read ↗

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

Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.Semantic proximity Read ↗

PTPN11 mutations play a minor role in isolated congenital heart disease.Semantic proximity Read ↗

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.Semantic proximity Read ↗

Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.Semantic proximity Read ↗

The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.Semantic proximity Read ↗

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

PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?Semantic proximity Read ↗

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.Semantic proximity Read ↗

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.Semantic proximity Read ↗

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