Article
Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.
JAMA ophthalmology - 1 Feb 2015
Blanco-Kelly Fiona, Jaijo Teresa, Aller Elena, Avila-Fernandez Almudena, López-Molina María Isabel, Giménez Ascensión, García-Sandoval Blanca, Millán José M, Ayuso Carmen
Abstract excerpt
IMPORTANCE: A new statistical approach is needed to describe the clinical differences between type I and type II Usher syndrome and between the 2 most frequent mutations in the USH2A gene. OBJECTIVES: To describe the primary phenotypic characteristics and differences between type I and type II Usher syndrome and to establish a phenotype-genotype correlation for the 2 most frequent mutations in the USH2A gene....
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