Arterial tortuosity syndrome: 40 new families and literature review.

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

Genetics in medicine : official journal of the American College of Medical Genetics, cilt.20, sa.10, ss.1236-1245, 2018 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 10
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1038/gim.2017.253
  • Dergi Adı: Genetics in medicine : official journal of the American College of Medical Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1236-1245
  • Anahtar Kelimeler: aneurysm, arterial tortuosity syndrome, electron microscopy, GLUT10, SLC2A10, RECESSIVE CUTIS LAXA, MARFAN-SYNDROME, MUTATIONS, PULMONARY, GLUT10, VESSELS, SYSTEM
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.