Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Guideline
. 1994 Mar 1;50(1):32-8.
doi: 10.1002/ajmg.1320500107.

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

R J Smith  1 , C I Berlin, J F Hejtmancik, B J Keats, W J Kimberling, R A Lewis, C G Möller, M Z Pelias, L Tranebjaerg
Affiliations
Guideline

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

R J Smith et al. Am J Med Genet. .

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.

PubMed Disclaimer

Publication types

MeSH terms

LinkOut - more resources