Clinical variability in two Macedonian families with Arterial tortuosity syndrome

Clinical variability in two Macedonian families with Arterial tortuosity syndrome

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 (SLC2A10) gene encoding a glucose/ascorbic acid transporter. The clinical features of ATS are mild-to-severe tortuosity of the large and medium arteries throughout t...

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Bibliographic Details
Main Authors: Kocova M, Kacarska R, Kuzevska-Maneva K, Prijic S, Lazareska M, Dordoni C, Ritelli M, Colombi M
Format: Article
Language:English
Published: Sciendo 2018-10-01
Series:Balkan Journal of Medical Genetics
Subjects:
arterial tortuosity syndrome (ats)
cerebral artery
consanguinity
phenotype variability
slc2a10 gene mutation
Online Access:https://doi.org/10.2478/bjmg-2018-0009

Internet

https://doi.org/10.2478/bjmg-2018-0009

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