<i>COL4A1</i> mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke

Abstract

Our data corroborate previous observations demonstrating the role of COL4A1 in cerebral microangiopathy and expand the phenotypic spectrum associated with mutations in this gene. We delineate a novel association between the Axenfeld-Rieger anomaly and leukoencephalopathy and stroke. Ann Neurol 2007.