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Article

Cardiac Phenotype and Gene Mutations in RASopathies.

Genes - 2 Aug 2024

Faienza Maria Felicia, Meliota Giovanni, Mentino Donatella, Ficarella Romina, Gentile Mattia, Vairo Ugo, D'amato Gabriele

Abstract excerpt

Cardiac involvement is a major feature of RASopathies, a group of phenotypically overlapping syndromes caused by germline mutations in genes encoding components of the RAS/MAPK (mitogen-activated protein kinase) signaling pathway. In particular, Noonan syndrome (NS) is associated with a wide spectrum of cardiac pathologies ranging from congenital heart disease (CHD), present in approximately 80% of patients, to...

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Source

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Identifiers

PMID: 39202376
DOI: 10.3390/genes15081015
PMCID: PMC11353738

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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