Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2

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

NEW ENGLAND JOURNAL OF MEDICINE, cilt.370, sa.10, ss.911-920, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 370 Sayı: 10
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1056/nejmoa1307361
  • Dergi Adı: NEW ENGLAND JOURNAL OF MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.911-920
  • Hacettepe Üniversitesi Adresli: Evet

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.