CLINICAL-DIAGNOSIS OF THE USHER SYNDROMES

被引：265

作者：

SMITH, RJH

BERLIN, CI

HEJTMANCIK, JF

KEATS, BJB

KIMBERLING, WJ

LEWIS, RA

MOLLER, CG

PELIAS, MZ

TRANEBJAERG, L

机构：

[1] LOUISIANA STATE UNIV,SCH MED,NEW ORLEANS,LA

[2] NEI,BETHESDA,MD 20892

[3] BOYS TOWN NATL RES HOSP,OMAHA,NE 68131

[4] LINKOPING UNIV,LINKOPING,SWEDEN

[5] BAYLOR COLL MED,HOUSTON,TX

[6] UNIV TROMSO,TROMSO,NORWAY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 50卷 / 01期

关键词：

USHER SYNDROME TYPE I; USHER SYNDROME TYPE II;

D O I：

10.1002/ajmg.1320500107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 1994 Wiley-Liss, Inc.

引用

页码：32 / 38

页数：7

共 34 条

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