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J Pediatr ; 155(5): 743-5, 2009 Nov.
Article in English | MEDLINE | ID: mdl-19840616

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.


Subject(s)
Cerebral Hemorrhage/genetics , Collagen Type IV/genetics , Diseases in Twins/genetics , Genetic Predisposition to Disease , Infant, Premature, Diseases/genetics , Mutation , Cerebral Hemorrhage/diagnostic imaging , Diseases in Twins/diagnostic imaging , Female , Follow-Up Studies , Gene Expression Regulation, Developmental , Gestational Age , Humans , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases/diagnostic imaging , Male , Pregnancy , Twins, Dizygotic , Ultrasonography, Doppler, Transcranial
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