Arterial tortuosity syndrome
- Arterial tortuosity syndrome
Infobox_Disease
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Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. It is associated with hyperextensible skin and hypermobility of joints.
It exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13. [cite journal |author=Coucke PJ, Wessels MW, Van Acker P, "et al" |title=Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 |journal=J. Med. Genet. |volume=40 |issue=10 |pages=747–751 |year=2003 |pmid=14569121 |doi=]
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