Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Porencephaly 2

Porencephaly type 2 is an autosomal dominant disease caused by mutations of the COL4A2 gene.

Systematic

Porencephaly
Porencephaly 1
Porencephaly 2
COL4A2

References:

1.

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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2.

OMIM.ORG article

Omim 614483 [^]
Update: May 10, 2019