Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2


Zhou Q., Yang D., Ombrello A. K. , Zavialov A. V. , Toro C., Zavialov A. V. , ...Daha Fazla

NEW ENGLAND JOURNAL OF MEDICINE, cilt.370, ss.911-920, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 370 Konu: 10
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1056/nejmoa1307361
  • Dergi Adı: NEW ENGLAND JOURNAL OF MEDICINE
  • Sayfa Sayıları: ss.911-920

Özet

BackgroundWe observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause because the disorder presented in early childhood.