Porencephaly 1
Porencephaly type 1 is an autosomal dominant disease caused by mutations of the COL4A1 gene.
Systematic
References:
| 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 [^] |
