Genetics of Inherited thrombocytopenias.
Sign Up to like & getrecommendations! Published in 2022 at "Blood"
DOI: 10.1182/blood.2020009300
Abstract: The inherited thrombocytopenia syndromes are a group of disorders characterized primarily by quantitative defects in platelet number, though with a variety demonstrating qualitative defects and/or extra-hematopoietic findings. Through collaborative international efforts applying next generation sequencing… read more here.
Keywords: genetics inherited; inherited thrombocytopenias; etiology; genetics ... See more keywords
Genetics of inherited cardiomyopathies in Africa.
Sign Up to like & getrecommendations! Published in 2020 at "Cardiovascular diagnosis and therapy"
DOI: 10.21037/cdt.2019.10.03
Abstract: In sub-Saharan Africa (SSA), the burden of noncommunicable diseases (NCDs) is rising disproportionately in comparison to the rest of the world, affecting urban, semi-urban and rural dwellers alike. NCDs are predicted to surpass infections like… read more here.
Keywords: cardiomyopathies africa; genetics inherited; heart; inherited cardiomyopathies ... See more keywords
Genetics of Inherited Retinal Diseases in Understudied Populations
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.858556
Abstract: Retinitis pigmentosa is one of the major forms of inherited retinal dystrophy transmitted in all Mendelian and non-Mendelian forms of inheritance. It involves the loss of retinal photoreceptor cells with severe loss of vision or… read more here.
Keywords: understudied populations; genetics inherited; inherited retinal; diseases understudied ... See more keywords
The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges
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DOI: 10.3390/genes12111837
Abstract: Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver diseases of unknown cause… read more here.
Keywords: disorders neonates; cholestatic disorders; genetics inherited; inherited cholestatic ... See more keywords