Clinical diagnosis of the Usher syndromes |
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Authors: | R. J. H. Smith,C. I. Berlin,J. F. Hejtmancik,B. J. B. Keats,W. J. Kimberling,R. A. Lewis,C. G. M ller,M. Z. Pelias,L. Tranebj r |
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Affiliation: | R. J. H. Smith,C. I. Berlin,J. F. Hejtmancik,B. J. B. Keats,W. J. Kimberling,R. A. Lewis,C. G. Möller,M. Z. Pelias,L. Tranebjærǵ |
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Abstract: | The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium. © 1994 Wiley-Liss, Inc. |
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Keywords: | Usher syndrome type I Usher syndrome type II |
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