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

Research output: Contribution to journalArticlepeer-review

45 Scopus citations

Fingerprint

Dive into the research topics of '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'. Together they form a unique fingerprint.

Medicine & Life Sciences