Usher综合征的临床诊断。Usher综合征协会。
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.
作者信息
Smith R J, Berlin C I, Hejtmancik J F, Keats B J, Kimberling W J, Lewis R A, Möller C G, Pelias M Z, Tranebjaerg L
机构信息
Department of Otolaryngology, University of Iowa, Iowa City 52242.
出版信息
Am J Med Genet. 1994 Mar 1;50(1):32-8. doi: 10.1002/ajmg.1320500107.
PMID:8160750
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.
摘要
乌谢尔综合征是具有特定表型特征的遗传性不同疾病。本文描述了一套推荐用于诊断I型乌谢尔综合征和II型乌谢尔综合征的临床标准。这些标准已被乌谢尔综合征协会采用，并用于该协会成员报告的研究中。
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