Neurologic phenotypes associated with COL4A1/2 mutations

Further refinement of COL4A1 and COL4A2 related cortical malformations

Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation

A Mutation in COL4A2 Causes Autosomal Dominant Porencephaly With Cataracts

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