<i>COL4A1</i> Mutation in Preterm Intraventricular Hemorrhage

Creative Commons License

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

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 155 Sayı: 5
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1016/j.jpeds.2009.04.014
  • Dergi Adı: JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.743-745
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

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).