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

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.

American journal of medical genetics. Part A - 1 Mar 2021

Noronha Renata M, Villares Sandra M F, Torres Natalia, Quedas Elisangela P S, Homma Thais Kataoka, Albuquerque Edoarda V A, Moraes Michelle B, Funari Mariana F A, Bertola Debora R, Jorge Alexander A L, Malaquias Alexsandra C

Abstract excerpt

Noonan syndrome (NS) and NS related disorders (NRD) are frequent monogenic diseases. Pathogenic variants in PTPN11 are observed in approximately 50% of these NS patients. Several pleiotropic phenotypes have previously been described in this condition. This study aimed at characterizing glucose and lipid profiles in patients with NS/NRD. We assessed fasting blood glucose, insulin, cholesterol (total and...

Read the complete abstract on PubMed

Topics

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

Share to Cross-Sectional Studies
Share to Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Metabolome

Share to Noonan Syndrome

Share to Prognosis

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to Young Adult

Source

Identifiers

PMID: 33382187
DOI: 10.1002/ajmg.a.62039

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

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.PMID 33382187Read ↗

Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.Semantic proximity Read ↗

Noonan syndrome: an update on growth and development.Semantic proximity Read ↗

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

Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort.Semantic proximity Read ↗

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

Spectrum of Mutations in PTPN11 in Russian Cohort.Semantic proximity Read ↗

Growth patterns of patients with Noonan syndrome: correlation with age and genotype.Semantic proximity Read ↗

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

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.Semantic proximity Read ↗

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

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.Semantic proximity Read ↗

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.Semantic proximity Read ↗

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