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.

SUBMITTER: Bilguvar K 

PROVIDER: S-EPMC2884156 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature