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

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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).