<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., ...More

JOURNAL OF PEDIATRICS, vol.155, no.5, pp.743-745, 2009 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 155 Issue: 5
  • Publication Date: 2009
  • Doi Number: 10.1016/j.jpeds.2009.04.014
  • Journal Name: JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.743-745
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

Abstract

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).