Arterial tortuosity syndrome: 40 new families and literature review.


Beyens A., Albuisson J., Boel A., Al-Essa M., Al-Manea W., Bonnet D., ...More

Genetics in medicine : official journal of the American College of Medical Genetics, vol.20, no.10, pp.1236-1245, 2018 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 10
  • Publication Date: 2018
  • Doi Number: 10.1038/gim.2017.253
  • Title of Journal : Genetics in medicine : official journal of the American College of Medical Genetics
  • Page Numbers: pp.1236-1245
  • Keywords: aneurysm, arterial tortuosity syndrome, electron microscopy, GLUT10, SLC2A10, RECESSIVE CUTIS LAXA, MARFAN-SYNDROME, MUTATIONS, PULMONARY, GLUT10, VESSELS, SYSTEM

Abstract

Purpose: We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.