CLINICAL-DIAGNOSIS OF THE USHER SYNDROMES

Authors
SMITH RJH BERLIN CI HEJTMANCIK JF KEATS BJB KIMBERLING WJ LEWIS RA MOLLER CG PELIAS MZ TRANEBJAERG L
Citation
Rjh. Smith et al., CLINICAL-DIAGNOSIS OF THE USHER SYNDROMES, American journal of medical genetics, 50(1), 1994, pp. 32-38
Citations number
34
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
50
Issue
1
Year of publication
1994
Pages
32 - 38
Database
ISI
SICI code
0148-7299(1994)50:1<32:COTUS>2.0.ZU;2-8
Abstract
The Usher syndromes are genetically distinct disorders which share spe cific phenotypic characteristics. This paper describes a set of clinic al 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 th is Consortium. (C) 1994 Wiley-Liss, Inc.