COL4A1 mutation in preterm intraventricular hemorrhage.
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ABSTRACT:
SUBMITTER: Bilguvar K
PROVIDER: S-EPMC2884156 | biostudies-literature | 2009 Nov
REPOSITORIES: biostudies-literature
Publications
COL4A1 mutation in preterm intraventricular hemorrhage.
Bilguvar Kaya K DiLuna Michael L ML Bizzarro Matthew J MJ Bayri Yasar Y Schneider Karen C KC Lifton Richard P RP Gunel Murat M Ment Laura R LR
The Journal of pediatrics 20091101 5
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. ...[more]
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