| Literature DB >> 21500141 |
R J Vermeulen1, C Peeters-Scholte, J J M Van Vugt, J J M G Van Vught, F Barkhof, P Rizzu, S R D van der Schoor, M S van der Knaap.
Abstract
Mutations in the gene COL4A1, encoding collagen IV A1, are associated with familial porencephaly. Previously, COL4A1 mutation-associated antenatal hemorrhages have been suggested by early post-natal imaging. We describe 2 children with fetal intracerebral hemorrhages and a COL4A1 mutation. There was also extensive hemispheric tissue loss in both infants and loss of cerebellar tissue in one infant. This paper show prenatal evidence of fetal hemorrhage in association with a COL4A1 mutation. © Georg Thieme Verlag KG Stuttgart · New York.Entities:
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Year: 2011 PMID： 21500141 DOI： 10.1055/s-0031-1275343
Source DB: PubMed Journal: Neuropediatrics ISSN： 0174-304X Impact factor: 1.947