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Article

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

European journal of human genetics : EJHG - 1 Oct 2009

Beneteau Claire, Cavé Hélène, Moncla Anne, Dorison Nathalie, Munnich Arnold, Verloes Alain, Leheup Bruno

Abstract excerpt

We report five cases of multiple giant cell lesions in patients with typical Noonan syndrome. Such association has frequently been referred to as Noonan-like/multiple giant cell (NL/MGCL) syndrome before the molecular definition of Noonan syndrome. Two patients show mutations in PTPN11 (p.Tyr62Asp and p.Asn308Asp) and three in SOS1 (p.Arg552Ser and p.Arg552Thr). The latter are the first SOS1 mutations reported...

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Source

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Identifiers

PMID: 19352411
DOI: 10.1038/ejhg.2009.44
PMCID: PMC2986637

Genes

PTPN11
SOS1

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.

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