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Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation

15 Dec 2024

Abstract excerpt

Arterial tortuosity syndrome (ATS, OMIM no. 208050) is an extremely rare autosomal recessive connective tissue disorder caused by biallelic pathogenic variants that cause loss of function in the SLC2A10 gene and is characterized by widespread elongation and tortuosity of medium- and large-sized arteries that place patients at risk for stenoses and aneurysm formation.1 Prenatal detection of ATS remains extremely...

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PMID: 40027906
DOI: 10.1016/j.case.2024.09.009

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