The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18. Issue 9 (19th July 2013)

• Record Type: Journal Article
• Authors: Aldahmesh, Mohammed A.; Alshammari, Muneera J.; Khan, Arif O.; Mohamed, Jawahir Y.; Alhabib, Fatimah A.; Alkuraya, Fowzan S.
• Is Part Of: Human mutation. Volume 34:Issue 9(2013:Sep.)
• Page Start: 1195
• Page End: 1199
• Publication Date: 2013-07-19
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22374
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22374-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Alkuraya and colleagues report the genetic etiology of a novel ocular syndrome that is characterized primarily by cataract, myopia and chorioretinal atrophy. Multiple consanguineous families mapped to a single locus on chr16q23.1 in which the authors identified several likely pathogenic mutations in ADAMTS18. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3726727g" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>