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

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

American journal of medical genetics. Part A - 1 Jul 2016

Milosavljević Doris, Overwater Eline, Tamminga Saskia, de Boer Karin, Elting Mariet W, van Hoorn Marion E, Rinne Tuula, Houweling Arjan C

Abstract excerpt

Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively. Including our patients, a total of 52 patients have been...

Read the complete abstract on PubMed

Topics

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

Share to Hydrops Fetalis
Share to Lower Extremity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Noonan Syndrome

Share to Phenotype

Share to ras Proteins

Source

Identifiers

PMID: 27109146
DOI: 10.1002/ajmg.a.37657

Genes

RIT1

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

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.PMID 27109146Read ↗

Mutations in RIT1 cause Noonan syndrome – additional functional evidence and expanding the clinical phenotypeSemantic proximity Read ↗

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.Semantic proximity Read ↗

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.Semantic proximity Read ↗

Prenatal cases with rare RIT1 variants causing severe fetal hydrops and deathSemantic proximity Read ↗

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.Semantic proximity Read ↗

Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature.Semantic proximity Read ↗

Lymphatic system malformations in Noonan syndrome: Two case reports and imaging analysis.Semantic proximity Read ↗

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.Semantic proximity Read ↗

Further evidence of the importance of RIT1 in Noonan syndrome.Semantic proximity Read ↗

Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review.Semantic proximity Read ↗

Refractory chylothorax due to thoracic duct stenosis in Noonan syndrome with RIT1 gene mutation: a case report and literature reviewSemantic proximity Read ↗

Noonan syndrome.Semantic proximity Read ↗

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