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Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

Di Donato, N. ; Neuhann, T. ; Kahlert, A.-K. ; Klink, B. ; Hackmann, K. ; Neuhann, I. ; Weber, Bernhard H. F. ; Schrock, Evelin ; Dobyns, William B. ; Bier, Andrea ; Rump, Andreas


Background Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders. We describe a novel syndrome caused by biallelic mutations in the 'exosome component 2' (EXOSC2) gene. Methods Clinical ascertainment of three similar affected patients followed by whole exome sequencing. Results Three individuals from two unrelated German families presented with a ...


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