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Article

Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.

Genes - 13 Nov 2024

Ilic Nikola, Krasic Stasa, Maric Nina, Gasic Vladimir, Krstic Jovana, Cvetkovic Dimitrije, Miljkovic Vesna, Zec Boris, Maver Ales, Vukomanovic Vladislav, Sarajlija Adrijan

Abstract excerpt

Background: Noonan syndrome (NS) is a congenital genetic disorder with a prevalence of 1 in 1000 to 2500 live births, and is characterized by distinctive facial features, short stature, chest deformities, and congenital heart disease. This study aims to evaluate the prevalence of specific genetic mutations and their impact on cardiovascular and other outcomes in NS. Methods: We conducted a retrospective clinical...

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Identifiers

PMID: 39596663
DOI: 10.3390/genes15111463
PMCID: PMC11594011

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