Article
Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.
Journal of medical genetics - 1 May 2022
Nollet Lukas, Campens Laurence, De Zaeytijd Julie, Leroy Bart, Hemelsoet Dimitri, Coucke Paul J, Vanakker Olivier M
Abstract excerpt
BACKGROUND: Biallelic pathogenic variants in the ATP-binding cassette subfamily C member 6 (ABCC6) gene cause pseudoxanthoma elasticum, a multisystemic ectopic calcification disorder, while heterozygous ABCC6 variants are associated with an increased risk of cardiovascular and cerebrovascular disease. As the prevalence of pathogenic ABCC6 variants in the general population is estimated at ~1%, identifying...
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