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Article

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

Genetic testing and molecular biomarkers - 1 Jun 2010

Brasil Amanda Salem, Pereira Alexandre C, Wanderley Luciana Turolla, Kim Chong Ae, Malaquias Alexsandra C, Jorge Alexander A L, Krieger José Eduardo, Bertola Débora Romeo

Abstract excerpt

Noonan and Noonan-like syndromes are disorders of dysregulation of the rat sarcoma viral oncogene homolog (RAS)-mitogen-activated protein kinase signaling pathway. In Noonan syndrome (NS), four genes of this pathway (PTPN11, SOS1, RAF1, and KRAS) are responsible for roughly 70% of the cases. We analyzed PTPN11 and KRAS genes by bidirectional sequencing in 95 probands with NS and 29 with Noonan-like syndromes,...

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Source

Identifiers

PMID: 20578946
DOI: 10.1089/gtmb.2009.0192

Genes

PTPN11
KRAS
RAF1
SOS1

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.

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