Article
Novel genetic causes for cerebral visual impairment.
European journal of human genetics : EJHG - 1 May 2016
Bosch Daniëlle G M, Boonstra F Nienke, de Leeuw Nicole, Pfundt Rolph, Nillesen Willy M, de Ligt Joep, Gilissen Christian, Jhangiani Shalini, Lupski James R, Cremers Frans P M, de Vries Bert B A
Abstract excerpt
Cerebral visual impairment (CVI) is a major cause of low vision in children due to impairment in projection and/or interpretation of the visual input in the brain. Although acquired causes for CVI are well known, genetic causes underlying CVI are largely unidentified. DNAs of 25 patients with CVI and intellectual disability, but without acquired (eg, perinatal) damage, were investigated by whole-exome sequencing....
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