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
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A. Rump | I. Glass | W. Berger | T. Neuhann | B. Klink | W. Dobyns | J. Altmüller | K. Hackmann | H. Thiele | N. Di Donato | J. Schallner | E. Schrock | I. Neuhann | A. Bier | Shawn E. Parnell | B. Novotna | A. Benet-Pagès | B. Weber | A. Kahlert | Anke M. Nissen | C. Krause