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

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...

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Veröffentlicht in:	Genes 2024-11, Vol.15 (11), p.1463
Hauptverfasser:	Ilic, Nikola, Krasic, Stasa, Maric, Nina, Gasic, Vladimir, Krstic, Jovana, Cvetkovic, Dimitrije, Miljkovic, Vesna, Zec, Boris, Maver, Ales, Vukomanovic, Vladislav, Sarajlija, Adrijan
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Analysis Cardiomyopathy Cardiomyopathy, Hypertrophic - epidemiology Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - pathology Child Child, Preschool Children Congenital heart disease Coronary artery disease Development and progression Exome Sequencing Female Gene mutations Genetic aspects Genetic disorders Genetic engineering Genomes Genotype Genotype & phenotype Genotypes Health aspects Heart diseases Heart failure Humans Infant Male Medical records Medical research Medicine, Experimental Mitochondrial DNA Mutation Noonan syndrome Noonan Syndrome - epidemiology Noonan Syndrome - genetics Noonan Syndrome - pathology Noonan's syndrome Pathogenesis Patients Pediatric clinics Pediatrics Phenotype Phenotypes Prevalence studies (Epidemiology) Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics Proto-Oncogene Proteins c-raf - genetics Pulmonary Valve Stenosis - epidemiology Pulmonary Valve Stenosis - genetics Pulmonary Valve Stenosis - pathology Retrospective Studies Rheumatic heart disease Software Stenosis Whole genome sequencing
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