Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

doi:10.1007/s10038-008-0320-0

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

Community

Back to search

Article

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

Journal of human genetics - 1 Jan 2008

Narumi Yoko, Aoki Yoko, Niihori Tetsuya, Sakurai Masahiro, Cavé Hélène, Verloes Alain, Nishio Kimio, Ohashi Hirofumi, Kurosawa Kenji, Okamoto Nobuhiko, Kawame Hiroshi, Mizuno Seiji, Kondoh Tatsuro, Addor Marie-Claude, Coeslier-Dieux Anne, Vincent-Delorme Catherine, Tabayashi Koichi, Aoki Masashi, Kobayashi Tomoko, Guliyeva Afag, Kure Shigeo, Matsubara Yoichi

Abstract excerpt

Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. There is a significant clinical overlap between NS and CFC syndrome, but ectodermal abnormalities and mental retardation are more frequent in CFC syndrome. Mutations in PTPN11 and KRAS have been identified in patients...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family

Share to Heart Defects, Congenital

Share to Infant

Share to Noonan Syndrome

Share to SOS1 Protein

Share to Syndrome

Source

Open in PubMed

Identifiers

PMID: 18651097
DOI: 10.1007/s10038-008-0320-0

Genes

SOS1
KRAS
BRAF
PTPN11
HRAS

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

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.PMID 18651097Read ↗

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disordersSemantic 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 ↗

Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.Semantic proximity Read ↗

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

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

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

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.Semantic proximity Read ↗

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

Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.Semantic proximity Read ↗

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.Semantic proximity Read ↗

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.Semantic proximity Read ↗

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