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Article

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

European journal of medical genetics - 1 Jan 2000

Nyström Anna-Maja, Ekvall Sara, Thuresson Ann-Charlotte, Denayer Ellen, Legius Eric, Kamali-Moghaddam Masood, Westermark Bengt, Annerén Göran, Bondeson Marie-Louise

Abstract excerpt

The RAS-MAPK syndromes are a group of clinically and genetically related disorders caused by dysregulation of the RAS-MAPK pathway. A member of this group of disorders, Noonan syndrome (NS), is associated with several different genes within the RAS-MAPK pathway. To date, mutations in PTPN11, SOS1, KRAS, RAF1 and SHOC2 are known to cause NS and a small group of patients harbour mutations in BRAF, MEK1 or NRAS. The...

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Source

Identifiers

PMID: 20302979
DOI: 10.1016/j.ejmg.2010.03.001

Genes

BRAF
KRAS
PTPN11
RAF1
SOS1
NRAS

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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Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.PMID 20302979Read ↗

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