A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.816476
Abstract: Background Somatic mutations for excess aldosterone production have been frequently identified as important roles in the pathogenesis of unilateral primary hyperaldosteronism (uPA). Although CACNA1H mutation represents a minor etiology in primary aldosteronism, it plays a… read more here.
Keywords: cacna1h v1937m; unilateral primary; primary hyperaldosteronism; novel somatic ... See more keywords
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Psychiatry"
DOI: 10.3389/fpsyt.2022.858238
Abstract: Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong genetic component. The genetic architecture is complex, consisting of a combination of common low-risk and more penetrant rare variants. Voltage-gated calcium channels… read more here.
Keywords: cacna1h variants; autism spectrum; spectrum disorder; susceptibility ... See more keywords