A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal
disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we
screened USH2A in 186 probands with recessive retinal disease and no hearing complaint
in childhood (discovery cohort) and in 84 probands with recessive retinal disease
(replication cohort). Detailed phenotyping, including retinal imaging and audiological
assessment, was performed in individuals with two likely disease-causing USH2A variants …
disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we
screened USH2A in 186 probands with recessive retinal disease and no hearing complaint
in childhood (discovery cohort) and in 84 probands with recessive retinal disease
(replication cohort). Detailed phenotyping, including retinal imaging and audiological
assessment, was performed in individuals with two likely disease-causing USH2A variants …
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
… Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal
disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we
screened USH2A in 186 probands with recessive retinal disease and no hearing compl …
Related Items …
disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we
screened USH2A in 186 probands with recessive retinal disease and no hearing compl …
Related Items …
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