Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report

Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report

Abstract Background Arterial tortuosity syndrome (ATS) (OMIM #208050) is a very rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and predisposition of aneurysms formation in medium and large-caliber arteries, vascular dissection, and ischemic events. To dat...

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Bibliographic Details
Main Authors: Daniel Palanca Arias, Ariadna Ayerza Casas, Marcos Clavero Adell, Cristina Gutiérrez Alonso, Marta López Ramón, Lorenzo Jiménez Montañés, Victoria Estaben Boldova, Silvia Izquierdo-Álvarez
Format: Article
Language:English
Published: SpringerOpen 2022-09-01
Series:Bulletin of the National Research Centre
Subjects:
Arterial tortuosity syndrome
Connective tissue diseases
Exome
Transthoracic echocardiography
Magnetic resonance angiography
Case report
Online Access:https://doi.org/10.1186/s42269-022-00938-2

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