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Ophthalmic Genetics Volume 28, 2007 - Issue 3
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Case Report

An Unusual Presentation of Macular Corneal Dystrophy Associated with Uniparental Isodisomy and a Novel Leu173Pro Mutation

Vivek S. Yellore Cornea Service, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
,
Baris Sonmez Cornea Service, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
,
Michael C. Chen Cornea Service, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
,
Sylvia A. Rayner Cornea Service, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
,
Eugene J. Thonar Departments of Biochemistry, Orthopedic Surgery and Internal Medicine, Rush Medical College, Chicago, Illinois, USA
&
Anthony J. Aldave Cornea Service, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
Pages 169-174 | Received 08 Feb 2007, Accepted 06 Apr 2007, Published online: 08 Jul 2009

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