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Article

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

European journal of pediatrics - 1 Jul 2009

Zaidi Syed H E, Meyer Sascha, Peltekova Vanya D, Lindinger Angelika, Teebi Ahmad S, Faiyaz-Ul-Haque Muhammad

Abstract excerpt

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder in which patients display tortuosity of arteries in addition to hyperextensible skin, joint laxity, and other connective tissue features. This syndrome is caused by mutations in the SLC2A10 gene. In this article we describe an ATS girl of Kurdish origin who, in addition to arterial tortuosity and connective tissue features, displays stomach...

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PMID: 18818946
DOI: 10.1007/s00431-008-0839-2

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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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