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Article

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

European journal of medical genetics - 1 Jan 2000

Fabretto Antonella, Kutsche Kerstin, Harmsen May-Britt, Demarini Sergio, Gasparini Paolo, Fertz Maria Cristina, Zenker Martin

Abstract excerpt

Noonan syndrome (NS) is an autosomal dominant, inherited disorder characterized by facial dysmorphism, congenital heart defects, and reduced postnatal growth. Dysregulated RAS-MAPK signalling is the common molecular basis for NS, a genetically heterogeneous disease. Germline mutations in genes encoding small GTPases of the RAS family (KRAS and NRAS), modulators of RAS function (PTPN11, SOS1 and SHOC2) or...

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Source

Identifiers

PMID: 20673819
DOI: 10.1016/j.ejmg.2010.07.011

Genes

SOS1
PTPN11
KRAS
NRAS
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

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Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.PMID 20673819Read ↗

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

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

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

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.Semantic proximity Read ↗

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.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 ↗

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

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.Semantic proximity Read ↗

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