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. Moller; M. Z. Pelias; L. Tranebjaerg

doi:10.1002/ajmg.1320500107

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. Moller, M. Z. Pelias, L. Tranebjaerg

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299 Scopus citations

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.

Original language	English (US)
Pages (from-to)	32-38
Number of pages	7
Journal	American journal of medical genetics
Volume	50
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320500107
State	Published - 1994
Externally published	Yes

Keywords

Usher syndrome type I
Usher syndrome type II

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320500107

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AU - Berlin, C. I.

AU - Hejtmancik, J. F.

AU - Keats, B. J.B.

AU - Kimberling, W. J.

AU - Lewis, R. A.

AU - Moller, C. G.

AU - Pelias, M. Z.

AU - Tranebjaerg, L.

PY - 1994

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KW - Usher syndrome type II

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Clinical diagnosis of the Usher syndromes

Abstract

Keywords

ASJC Scopus subject areas

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