COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective

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

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

A Mutation in COL4A2 Causes Autosomal Dominant Porencephaly With Cataracts

Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

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

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

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