Article

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

2022-12-05

Abstract excerpt

<h4>Background: </h4> and purpose: 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, focal stenosis and aneurysm formation. It’s considered an extremely rare disease; only 106 individuals with genetically confirmed ATS have been identified to d...

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Literature Corpus work: 51dfd8c0-f642-5af2-bd9a-46f5cb3f708a
DOI: 10.21203/rs.3.rs-2321263/v1

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