Article

Domain-Specific Phenotypic Profiles in RAF1-Related Noonan Syndrome

2025-10-15

Abstract excerpt

<title>Abstract</title> <p> Pathogenic variants in <italic>RAF1</italic> are a common cause of Noonan syndrome (NS), accounting for approximately 5% of cases. Nonetheless, <italic>RAF1</italic> -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 an...

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Literature Corpus work: 37f1cae7-2765-591a-84f2-5ec21a2ba791
DOI: 10.21203/rs.3.rs-7696796/v1

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