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Article

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

American journal of medical genetics. Part A - 1 Nov 2015

Lissewski Christina, Kant Sarina G, Stark Zornitza, Schanze Ina, Zenker Martin

Abstract excerpt

The RASopathies comprise a group of clinically overlapping developmental syndromes the common pathogenetic basis of which is dysregulated signal flow through the RAS-MAPK pathway. Mutations in several components or modifiers of the pathway have been identified in Noonan syndrome and related disorders. Over the past years copy number variants (CNVs) encompassing RAS pathway genes (PTPN11, RAF1, MEK2, or SHOC2)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25974318
DOI: 10.1002/ajmg.a.37155

Genes

RAF1
PTPN11

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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