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 BierAndreas Rump

*Corresponding author for this work

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

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Biochemistry, Genetics and Molecular Biology