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

Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation.

American journal of medical genetics. Part A - 15 Nov 2008

Mascheroni Elisabetta, Digilio M Cristina, Cortis Elisabetta, Devito Rita, Sarkozy Anna, Capolino Rossella, Dallapiccola Bruno, Ugazio Alberto G

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Adolescent
Share to SOS1 gene
Share to Noonan Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to SOS1 Protein

Source

Identifiers

PMID: 18925667
DOI: 10.1002/ajmg.a.32538

Genes

SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation.PMID 18925667Read ↗

Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations.Semantic proximity Read ↗

Short arm of chromosome 1 aberration recurrently found in pigmented villonodular synovitisSemantic proximity Read ↗

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.Semantic proximity Read ↗

<i>SOS1</i> is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeSemantic proximity Read ↗

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.Semantic proximity Read ↗

Juvenile xanthogranuloma in Noonan syndrome.Semantic proximity Read ↗

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.Semantic proximity Read ↗

Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.Semantic proximity Read ↗

Germline gain-of-function mutations in SOS1 cause Noonan syndromeSemantic proximity Read ↗

Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene.Semantic proximity Read ↗

Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation.Semantic proximity Read ↗

[SOS1 mutation: a new cause of Noonan syndrome].Semantic proximity Read ↗

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