COL4A1 mutation in preterm intraventricular hemorrhage.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19840616.
- Also identified by DOI 10.1016/j.jpeds.2009.04.014 and PMC identifier 2884156.
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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.
Medical subject headings
- Cerebral Hemorrhage
- Collagen Type IV
- Diseases in Twins
- Genetic Predisposition to Disease
- Infant, Premature, Diseases
- Mutation