Die Porenzephalie ist durch Defekte der Hirnsubstanz gekennzeichnet. Dese können Hohlräume bilden, die mit dem Ventrikelsystem kommunizieren oder Einziehungen auf der Oberfläche verursachen. Es gibt erbliche und erworbene Formen.
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Gould DB et al. (2005) Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. |
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Vilain C et al. (2002) Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. |
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Aguglia U et al. (2004) Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. |
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van der Knaap MS et al. (2006) Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. |
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de Vries LS et al. (2009) COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. |
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Yoneda Y et al. (2012) De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. |
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Sensi A et al. (1990) Familial porencephaly. |
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Zonana J et al. (1986) Familial porencephaly and congenital hemiplegia. |
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Haar F et al. (1977) Hereditary nonprogressive athetotic hemiplegia: a new syndrome. |
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Smit LM et al. (1984) Familial porencephalic white matter disease in two generations. |
11. |
Berg RA et al. (1983) Familial porencephaly. |
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Bönnemann CG et al. (1996) Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity. |
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OMIM.ORG article Omim 601322 |
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Orphanet article Orphanet ID 2940 |
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Wikipedia Artikel Wikipedia DE (Porenzephalie) |