Clinical diagnosis of the Usher syndromes

1994341 citationsJournal Article

Authors

Richard J. Smith · University of Iowa

Charles I. Berlín · Louisiana State University

J. Fielding Hejtmancik · National Eye Institute

Bronya J.B. Keats · Louisiana State University Health Sciences Center New Orleans

William J. Kimberling · Boys Town National Research Hospital

Richard A. Lewis · Baylor College of Medicine

Claes Möller

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.

Topics & Keywords

Hearing, Cochlea, Tinnitus, Genetics Plant Molecular Biology Research Biochemical Analysis and Sensing Techniques

Publication Details

Published in: American Journal of Medical Genetics

Volume 50, Issue 1, pp. 32-38

DOI: 10.1002/ajmg.1320500107

Field-Weighted Citation Impact: 5.11

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Clinical diagnosis of the Usher syndromes

Authors

Abstract

Topics & Keywords

Publication Details