COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there is no consensus on management and preventative strategies.

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

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Porencephaly in a Fetus and HANAC in Her Father: Variable Expression of COL4A1 Mutation

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

A new family with autosomal dominant porencephaly with a novel COL4A1 mutation. Are arachnoid cysts related to COL4A1 mutations?

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

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen a2 Chain Cause Porencephaly

Fetal Origin of Brain Damage in 2 Infants with a COL4A1 Mutation: Fetal and Neonatal MRI.

COL4A1 Mutation in Two Preterm Siblings with Antenatal Onset of Parenchymal Hemorrhage.

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

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

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly

Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.

Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.