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Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation

Fung, A. T., Stöhr, Heidi, Weber, Bernhard H. F. , Holz, F. G. and Yannuzzi, L. A. (2013) Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. Retinal Cases & Brief Reports 7, pp. 71-74.

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Abstract

PURPOSE: The purpose of this study was to report a patient with an atypical presentation of Sorsby fundus dystrophy. METHODS: Retrospective chart review. RESULTS: A 38-year-old man with a family history of Sorsby fundus dystrophy presented for ophthalmic examination. The patient had unilateral disease with an atypical appearance mimicking a pattern dystrophy. Molecular analysis of the TIMP-3 gene ...

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Item type:Article
Date:2013
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1097/ICB.0b013e318267101eDOI
25390527PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35186
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