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Article

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

European journal of human genetics : EJHG - 1 Apr 2009

Neumann Thomas E, Allanson Judith, Kavamura Ines, Kerr Bronwyn, Neri Giovanni, Noonan Jacqueline, Cordeddu Viviana, Gibson Kate, Tzschach Andreas, Krüger Gabriele, Hoeltzenbein Maria, Goecke Timm O, Kehl Hans Gerd, Albrecht Beate, Luczak Klaudiusz, Sasiadek Maria M, Musante Luciana, Laurie Rohan, Peters Hartmut, Tartaglia Marco, Zenker Martin, Kalscheuer Vera

Abstract excerpt

Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by m...

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Source

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Identifiers

PMID: 18854871
DOI: 10.1038/ejhg.2008.188
PMCID: PMC2986220

Genes

KRAS
PTPN11
BRAF
SOS1
RAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18854871-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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