Cardiac Phenotype and Gene Mutations in RASopathies.
Faienza MF, Meliota G, Mentino D, Ficarella R, Gentile M, Vairo U, D'amato G.
Faienza MF, et al.
Genes (Basel). 2024 Aug 2;15(8):1015. doi: 10.3390/genes15081015.
Genes (Basel). 2024.
PMID: 39202376
Free PMC article.
Review.
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) …
Cardiac involvement is a major feature of RASopathies, a group of phenotypically overlapping syndromes caused by germline mutations in genes …