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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

  • Nataliya Di Donato*
  • , Teresa Neuhann
  • , Anne Karin Kahlert
  • , Barbara Klink
  • , Karl Hackmann
  • , Irmingard Neuhann
  • , Barbora Novotna
  • , Jens Schallner
  • , Claudia Krause
  • , Ian A. Glass
  • , Shawn E. Parnell
  • , Anna Benet-Pages
  • , Anke M. Nissen
  • , Wolfgang Berger
  • , Janine Altmüller
  • , Holger Thiele
  • , Bernhard H.F. Weber
  • , Evelin Schrock
  • , William B. Dobyns
  • , Andrea Bier
    • Andreas Rump
*Corresponding author for this work

Research output: Contribution to journal › Article › Research › peer-review

70 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology