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Article

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

Atherosclerosis - 1 Apr 2009

Faiyaz-Ul-Haque Muhammad, Zaidi Syed H E, Al-Sanna Nouriyah, Alswaid Abdulrahman, Momenah Tariq, Kaya Namik, Al-Dayel Fouad, Bouhoaigah Issam, Saliem Mohammed, Tsui Lap-Chee, Teebi Ahmad S

Abstract excerpt

Arterial tortuosity syndrome is an autosomal recessive disorder characterized by severe tortuosity of greater and systemic arteries in affected individuals. In addition, patients display connective tissue features which include hyperextensible skin, hypermobility of joints and characteristic facial features. This syndrome is caused by mutation in SLC2A10 gene which encodes for the facilitative glucose...

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PMID: 18774132
DOI: 10.1016/j.atherosclerosis.2008.07.026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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