Article

Arterial tortuosity syndrome: phenotypic and cardiovascular features in 4 newly identified patients

2023-02-22

Abstract excerpt

Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disease caused by biallelic variants in the SLC2A10 gene and characterized by tortuosity and elongation of the aorta and medium-sized arteries. It’s considered an extremely rare disease; only 106 individuals with genetically confirmed ATS have been identified to date. The aim of this study is to contribute to the phenotypic, cardiovascu...

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Literature Corpus work: 612f361e-7e05-58a2-b9df-2d7d9e0a1452
DOI: 10.21203/rs.3.rs-2594978/v1

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