Visual snow syndrome: a comparison between an Italian and British population
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DOI: 10.1111/ene.14369
Abstract: Visual snow manifests as a pan‐field, dynamic visual disturbance described as continuous television static‐like tiny flickering dots. Current diagnostic criteria further require at least two additional symptoms for visual snow syndrome (VSS) from: palinopsia (afterimages… read more here.
Keywords: snow syndrome; british population; visual snow; italian british ... See more keywords
A founder UMOD variant is a common cause of hereditary nephropathy in the British population
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108704
Abstract: Background Monogenic disorders are estimated to account for 10%–12% of patients with kidney failure. We report the unexpected finding of an unusual uromodulin (UMOD) variant in multiple pedigrees within the British population and demonstrate a… read more here.
Keywords: founder umod; umod variant; british population; variant common ... See more keywords