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Autor:
R J, Smith, C I, Berlin, J F, Hejtmancik, B J, Keats, W J, Kimberling, R A, Lewis, C G, Möller, M Z, Pelias, L, Tranebjaerg
Publikováno v:
American journal of medical genetics. 50(1)
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