‘De novo’ Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms

Two families with novel missense mutations in COL4A1: When diagnosis can be missed

Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Clinical and brain MRI follow-up study of a family with COL4A1 mutation.

COL4A1 Mutation in Axenfeld–Rieger Anomaly with Leukoencephalopathy and Stroke.

COL4A1 Mutation in a Patient With Sporadic, Recurrent Intracerebral Hemorrhage.

Neonatal Porencephaly and Adult Stroke Related to Mutations in Collagen IV A1