Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

doi:10.1038/s41431-025-02002-9

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Article

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

European journal of human genetics : EJHG - 1 Feb 2026

Gazzin Andrea, Calvo Marta, Rondot Federico, Reynolds Giuseppe, Leoni Chiara, Niceta Marcello, Dentici Maria Lisa, Digilio Maria Cristina, Lepri Francesca, Monda Emanuele, Carelli Ilaria, Trevisson Eva, Scala Iris, Mancano Giorgia, Andreucci Elena, Stanzial Franco, Brancati Francesco, Zampino Giuseppe, Tarani Luigi, Paparella Roberto, Carli Diana, Villar Anna Maria, Banaudi Elena, Massuras Stefania, Cardaropoli Simona, Daniele Paola, Airulo Elena, Riggi Chiara, Calcagni Giulio, Ferrero Giovanni Battista, Limongelli Giuseppe, De Luca Alessandro, Tartaglia Marco, Mussa Alessandro

Abstract excerpt

Pathogenic variants in RAF1 are a common cause of Noonan syndrome (NS), accounting for approximately 5% of cases. Nonetheless, RAF1-related NS is often associated with severe clinical features, particularly hypertrophic cardiomyopathy (HCM). Although initial studies highlighted the occurrence of genotype-phenotype correlations, a comprehensive analysis specifically focused on RAF1 variants is still lacking. We...

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Identifiers

PMID: 41507607
DOI: 10.1038/s41431-025-02002-9
PMCID: PMC12859092

Genes

RAF1
CR2

Variants

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