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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249 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 languageEnglish (US)
Pages (from-to)32-38
Number of pages7
JournalAmerican journal of medical genetics
Volume50
Issue number1
DOIs
StatePublished - 1994
Externally publishedYes

Keywords

  • Usher syndrome type I
  • Usher syndrome type II

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Smith, R. J. H., Berlin, C. I., Hejtmancik, J. F., Keats, B. J. B., Kimberling, W. J., Lewis, R. A., Moller, C. G., Pelias, M. Z., & Tranebjaerg, L. (1994). Clinical diagnosis of the Usher syndromes. American journal of medical genetics, 50(1), 32-38. https://doi.org/10.1002/ajmg.1320500107