Condition: Porencephaly, Type 1, Autosomal Dominant
rs113994108 in
COL4A1 gene and
Porencephaly, Type 1, Autosomal Dominant
PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
PMID 23394911 2013 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
PMID 24628545 2014 Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
PMID 16107487 2006 Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
PMID 17696175 2007 COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
PMID 19477666 2010 A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
PMID 22574627 2012 Childhood presentation of COL4A1 mutations.
PMID 17379824 2007 COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
PMID 19194877 2009 COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.
PMID 20385946 2010 Ophthalmological features associated with COL4A1 mutations.
PMID 15905400 2005 Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
PMID 16598045 2006 Role of COL4A1 in small-vessel disease and hemorrhagic stroke.