Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2022.0901
Abstract: Importance Pathogenic variants associated with inherited cardiomyopathy are recognized as important and clinically actionable when identified, leading some clinicians to recommend population-wide genomic screening. Objective To determine the prevalence and clinical importance of pathogenic variants… read more here.
Keywords: associated inherited; inherited cardiomyopathy; cause mortality; mortality ... See more keywords
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02370-4
Abstract: A proper interpretation of the pathogenicity of rare variants is crucial before clinical translation. Ongoing addition of new data may modify previous variant classifications; however, how often a reanalysis is necessary remains undefined. We aimed… read more here.
Keywords: clinical impact; associated inherited; rare variants; inherited channelopathies ... See more keywords
Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1320757
Abstract: Background Kearns-Sayre syndrome (KSS) is classified as one of the mitochondrial DNA (mtDNA) deletion syndromes with multisystemic involvement. Additionally, the negative prognosis is associated with inherited thrombophilia, which includes the presence of homozygous Factor V… read more here.
Keywords: inherited thrombophilia; genetics; kearns sayre; associated inherited ... See more keywords