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Article

The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.

Molecular genetics & genomic medicine - 1 Jan 2024

Zeng Lan, Wang Jin, Zhu Hui, Huang Yu, Deng Yi, Wei Ping, Nie Jing, Tang Bei, Chen Ai, Zhu Shuyao

Abstract excerpt

BACKGROUND: Noonan syndrome (NS) due to the RRAS2 gene, the pathogenic variant is an extremely rare RASopathies. Our objective was to identify the potential site of RRAS2, combined with the literature review, to find the correlation between clinical phenotype and genotype. De novo missense mutations affect different aspects of the RRAS2 function, leading to hyperactivation of the RAS-MAPK signaling cascade....

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Identifiers

PMID: 37942564
DOI: 10.1002/mgg3.2313
PMCID: PMC10767593

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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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