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...
Main Authors: | Kocova M, Kacarska R, Kuzevska-Maneva K, Prijic S, Lazareska M, Dordoni C, Ritelli M, Colombi M |
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Format: | Article |
Language: | English |
Published: |
Sciendo
2018-10-01
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Series: | Balkan Journal of Medical Genetics |
Subjects: | |
Online Access: | https://doi.org/10.2478/bjmg-2018-0009 |
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