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Article

Arterial tortuosity syndrome in two Italian paediatric patients.

Orphanet journal of rare diseases - 25 Sept 2009

Ritelli Marco, Drera Bruno, Vicchio Mariano, Puppini Giovanni, Biban Paolo, Pilati Mara, Prioli Maria Antonia, Barlati Sergio, Colombi Marina

Abstract excerpt

BACKGROUND: Arterial tortuosity syndrome (ATS) (OMIM #208050) is a rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries, propensity to aneurysms formation, vascular dissection, and pulmonary arteries stenosis. ATS is caused by mutations in SLC2A10 gene, encoding for the facilitative glucose transporter 10 (GLUT10). So far, 17 SLC2A10...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19781076
DOI: 10.1186/1750-1172-4-20
PMCID: PMC2759904

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