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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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Detalles Bibliográficos
Autores principales:	Kocova, M, Kacarska, R, Kuzevska-Maneva, K, Prijic, S, Lazareska, M, Dordoni, C, Ritelli, M, Colombi, M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sciendo 2018
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231313/ https://www.ncbi.nlm.nih.gov/pubmed/30425910 http://dx.doi.org/10.2478/bjmg-2018-0009

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