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Clinical diagnosis of the Usher syndromes
Journal article   Peer reviewed

Clinical diagnosis of the Usher syndromes

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 and L Tranebjærǵ
American journal of medical genetics, Vol.50(1), pp.32-38
03/01/1994
DOI: 10.1002/ajmg.1320500107
PMID: 8160750

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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.
Usher syndrome type II Usher syndrome type I

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