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Porencephaly 1

Porencephaly type 1 is an autosomal dominant disease caused by mutations of the COL4A1 gene.

Systematic

Porencephaly
Porencephaly 1
COL4A1
Porencephaly 2

References:

1.

Gould DB et al. (2005) Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

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2.

Vilain C et al. (2002) Neuroimaging fails to identify asymptomatic carriers of familial porencephaly.

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3.

Aguglia U et al. (2004) Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.

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4.

van der Knaap MS et al. (2006) Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

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5.

de Vries LS et al. (2009) COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

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6.

Sensi A et al. (1990) Familial porencephaly.

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7.

Zonana J et al. (1986) Familial porencephaly and congenital hemiplegia.

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8.

Haar F et al. (1977) Hereditary nonprogressive athetotic hemiplegia: a new syndrome.

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9.

Smit LM et al. (1984) Familial porencephalic white matter disease in two generations.

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10.

Berg RA et al. (1983) Familial porencephaly.

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11.

OMIM.ORG article

Omim 175780 external link
Update: Aug. 14, 2020
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