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, the SOS1 gene and embryonal rhabdomyosarcoma.

Genes, chromosomes & cancer - 1 Jul 2010

Jongmans Marjolijn C J, Hoogerbrugge Peter M, Hilkens Linda, Flucke Uta, van der Burgt Ineke, Noordam Kees, Ruiterkamp-Versteeg Martina, Yntema Helger G, Nillesen Willy M, Ligtenberg Marjolijn J L, van Kessel Ad Geurts, Kuiper Roland P, Hoogerbrugge Nicoline

Abstract excerpt

Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, facial dysmorphisms, and congenital heart defects, and is caused by mutations in either PTPN11, KRAS, NRAS, SHOC2, RAF1, or SOS1. Furthermore, NS is known for its predisposition to develop cancer, particularly hematological malignancies and specific solid tumors, mainly neuroblastoma and embryonal rhabdomyosacroma (ERMS)....

Read the complete abstract on PubMed

Topics

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

Share to Genes, ras
Share to Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Hematologic Neoplasms

Share to Noonan Syndrome

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to Rhabdomyosarcoma, Embryonal

Share to Uniparental Disomy

Source

Identifiers

PMID: 20461756
DOI: 10.1002/gcc.20773

Genes

SOS1
KRAS
NRAS
PTPN11
RAF1

Variants

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, the SOS1 gene and embryonal rhabdomyosarcoma.PMID 20461756Read ↗

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.Semantic proximity Read ↗

SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients.Semantic proximity Read ↗

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

Childhood Rhabdomyosarcoma in Association With a RASopathy Clinical Phenotype and Mosaic Germline SOS1 Duplication.Semantic proximity Read ↗

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.Semantic proximity Read ↗

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?Semantic proximity Read ↗

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.Semantic proximity Read ↗

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

Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.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 ↗

Ras/MAPK syndromes and childhood hemato-oncological diseases.Semantic proximity Read ↗

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

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