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)

• Record Type: Journal Article
• Authors: Akawi, Nadia A.; Canpolat, Fuat E.; White, Susan M.; Quilis‐Esquerra, Josep; Morales Sanchez, Martin; Gamundi, Maria José; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Ali, Bassam R.; Al‐Gazali, Lihadh
• Is Part Of: Human mutation. Volume 34:Issue 3(2013:Mar.)
• Page Start: 498
• Page End: 505
• Publication Date: 2013-02-18
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22263
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22263-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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). <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg1tt8dj01" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>