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

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

European journal of human genetics : EJHG - 1 Feb 2003

Musante Luciana, Kehl Hans G, Majewski Frank, Meinecke Peter, Schweiger Susann, Gillessen-Kaesbach Gabriele, Wieczorek Dagmar, Hinkel Georg K, Tinschert Sigrid, Hoeltzenbein Maria, Ropers Hans-Hilger, Kalscheuer Vera M

Abstract excerpt

Noonan syndrome (NS) is a relatively common, but genetically heterogeneous autosomal dominant malformation syndrome. Characteristic features are proportionate short stature, dysmorphic face, and congenital heart defects. Only recently, a gene involved in NS could be identified. It encodes the non...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

Share to Noonan Syndrome

Share to Phenotype

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to Protein Tyrosine Phosphatases

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 12634870
DOI: 10.1038/sj.ejhg.5200935

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12634870-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.PMID 12634870Read ↗

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

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

Noonan syndrome.Semantic proximity Read ↗

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.Semantic proximity Read ↗

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

Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.Semantic proximity Read ↗

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.Semantic proximity Read ↗

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.Semantic proximity Read ↗

Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.Semantic proximity Read ↗

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.Semantic proximity Read ↗

Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.Semantic proximity Read ↗

Mutation and Phenotypic Spectrum of Patients With RASopathies.Semantic proximity Read ↗

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