期刊
JOURNAL OF PEDIATRICS
卷 155, 期 5, 页码 743-745出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2009.04.014
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资金
- National Institutes of Health [NS053l865, NS 27116, U24 NS051869]
- Yale Program on Neurogenetics
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).
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