Article
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.
Annals of neurology - 1 Jan 2009
de Vries Linda S, Koopman Corine, Groenendaal Floris, Van Schooneveld Mary, Verheijen Frans W, Verbeek Elly, Witkamp Theo D, van der Worp H Bart, Mancini Grazia
Abstract excerpt
OBJECTIVE: To report the presence of intracerebral hemorrhage and porencephaly, both present at birth, in two preterm infants with a mutation in the collagen 4 A1 gene. METHODS: Two preterm infants with antenatal intracerebral hemorrhage and established porencephaly, as well as their affected mother and grandfather, underwent neurological and ophthalmological examination and magnetic resonance imaging of the...
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