Die Porenzephalie Typ 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im COL4A1-Gen hervorgerufen wird.
1. |
Gould DB et al. (2005) Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. ![]() |
2. |
Vilain C et al. (2002) Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. ![]() |
3. |
Aguglia U et al. (2004) Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. ![]() |
4. |
van der Knaap MS et al. (2006) Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. ![]() |
5. |
de Vries LS et al. (2009) COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. ![]() |
6. |
Sensi A et al. (1990) Familial porencephaly. ![]() |
7. |
Zonana J et al. (1986) Familial porencephaly and congenital hemiplegia. ![]() |
8. |
Haar F et al. (1977) Hereditary nonprogressive athetotic hemiplegia: a new syndrome. ![]() |
9. |
Smit LM et al. (1984) Familial porencephalic white matter disease in two generations. ![]() |
10. |
Berg RA et al. (1983) Familial porencephaly. ![]() |
11. |
OMIM.ORG article Omim 175780![]() |