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2016
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 and Rump, Andreas
(2016)
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.
Journal of Medical Genetics 53 (6), pp. 419-425.
Fulltext not available.
, Schrock, Evelin, Dobyns, William B. , Bier, Andrea and Rump, Andreas
(2016)
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.
Journal of Medical Genetics 53 (6), pp. 419-425.
Fulltext not available.
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