Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?

Pediatric cardiology - 1 Oct 2009

Faienza Maria Felicia, Giordani Lucia, Ferraris Marina, Bona Gianni, Cavallo Luciano

Abstract excerpt

Noonan syndrome (NS) is an autosomal dominant disorder characterized by multiple dysmorphic features and a broad spectrum of congenital heart defects. Specific mutations of the PTPN11 gene are associated with 50% of the NS cases and 90% of the multiple lentigines/LEOPARD syndrome (ML/LS) cases. These two allelic conditions have several overlapping clinical features. This study describes the association between...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Fatal Outcome
Share to PTPN11 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation

Share to Noonan Syndrome

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Source

Identifiers

PMID: 19582499
DOI: 10.1007/s00246-009-9473-7

Genes

PTPN11

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?PMID 19582499Read ↗

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

PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".Semantic proximity Read ↗

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.Semantic proximity Read ↗

Genotype-phenotype correlations in Noonan syndrome.Semantic proximity Read ↗

Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?Semantic proximity Read ↗

Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.Semantic proximity Read ↗

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.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 ↗

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

Noonan syndrome: Severe phenotype and PTPN11 mutations.Semantic proximity Read ↗

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

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.