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Article

[SOS1 mutation: a new cause of Noonan syndrome].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Apr 2008

Serrano-Martín M M, Martínez-Aedo M J, Tartaglia M, López-Siguero J P

Abstract excerpt

Noonan syndrome, characterized by short stature, facial anomalies, heart disease and cryptorchidism in males, is an autosomal dominant, genetically heterogeneous disease. Approximately 50 % of Noonan syndrome cases are caused by gain-of-function mutations in PTPN11, encoding the tyrosine phosphatase (SHP2) and 5 % are caused by KRAS mutations. Recently, a new mutation in SOS1 gene has been identified in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18394382
DOI: 10.1157/13117708

Genes

SOS1
PTPN11
KRAS

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

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Research trail→

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[SOS1 mutation: a new cause of Noonan syndrome].PMID 18394382Read ↗

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

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

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

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

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

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

[New findings in Noonan syndrome and Leopard syndrome: activating mutations in RAF-1 and SOS-1].Semantic proximity Read ↗

[Clinical practice guidelines for Noonan syndrome].Semantic proximity Read ↗

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.Semantic proximity Read ↗

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