Research Paper: 2009 Bilguvar

Date Published : 06/13/2010

Summary: COL4A1 Mutation in Preterm Intraventricular Hemorrhage.

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.