Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts. Issue 3 (18th February 2013) - Akawi, Nadia A.
Abstract Mutations in Junctional adhesion molecule 3 (JAM3) cause the recessive syndrome involving hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. T2‐weighted axial brain MRI of a patient reveals multifocal intraparenchymal hemorrhages of varying ages leading to calcifications (arrows) as well as intraventricular hemorrhage (asterisks).