Nadia A. Akawi, Fuat E. Canpolat, Susan M. White, Josep Quilis-Esquerra, Martin Morales Sanchez, Maria José Gamundi, Ganeshwaran H. Mochida, Christopher A. Walsh, Bassam R. Ali and Lihadh Al-Gazali 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 Human Mutation 34
Article first published online: 18 FEB 2013 | DOI: 10.1002/humu.22263
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).
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