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

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

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

Jongmans Marjolijn, Sistermans Erik A, Rikken Alwin, Nillesen Willy M, Tamminga Rienk, Patton Michael, Maier Esther M, Tartaglia Marco, Noordam Kees, van der Burgt Ineke

Abstract excerpt

Noonan syndrome (NS) is an autosomal dominant disorder, characterized by short stature, minor facial anomalies, and congenital heart defects. In approximately 50% of cases the condition is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the protein SHP-2. In this study, PTPN11 mutation analysis was performed in 170 NS patients. In 76 (45%) of them a mutation...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

Share to Noonan Syndrome

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to Protein Tyrosine Phosphatases

Share to Review Literature as Topic

Share to src Homology Domains

Source

Identifiers

PMID: 15723289
DOI: 10.1002/ajmg.a.30598

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.PMID 15723289Read ↗

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

New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.Semantic proximity Read ↗

New insights on Noonan syndrome’s clinical phenotype: a single center retrospective studySemantic proximity Read ↗

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

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

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

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two IndividualsSemantic proximity Read ↗

[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts].Semantic proximity Read ↗

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

Genetics and variation in phenotype in Noonan syndrome.Semantic proximity Read ↗

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

Noonan syndrome.Semantic proximity Read ↗

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