Severity of arterial defects in the retina correlates with the burden of intracerebral haemorrhage in COL4A1-related stroke

Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse

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

Novel COL4A1 Mutation in an Infant with Severe Dysmorphic Syndrome with Schizencephaly, Periventricular Calcifications, and Cataract Resembling Congenital Infection

Col4a1 mutations cause progressive retinal neovascular defects and retinopathy

Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations

Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation

COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans.

Abnormal Expression of Collagen IV in Lens Activates Unfolded Protein Response Resulting in Cataract.

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 causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.

Type IV Procollagen Missense Mutations Associated With Defects of the Eye, Vascular Stability, the Brain, Kidney Function and Embryonic or Postnatal Viability in the Mouse, Mus musculus: An Extension of the Col4a1 Allelic Series and the Identification of the First Two Col4a2 Mutant Alleles.