COL4A1 Mutation in Preterm Intraventricular Hemorrhage


Bilguvar K., DiLuna M. L. , Bizzarro M. J. , BAYRİ Y. , Schneider K. C. , Lifton R. P. , ...Daha Fazla

JOURNAL OF PEDIATRICS, cilt.155, sa.5, ss.743-745, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 155 Konu: 5
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1016/j.jpeds.2009.04.014
  • Dergi Adı: JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.743-745

Özet

Intraventricular hemorrhage is a common complication of preterm infants. Mutations in the type IV procollagen gene, COL4A1, are associated with cerebral small vessel disease with hemorrhage in adults and fetuses. We report a rare variant in COL4A1 associated with intraventricular hemorrhage in dizygotic preterm twins. These results expand the spectrum of diseases attributable to mutations in type IV procollagens. (J Pediatr 2009; 155: 743-5).