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
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.
Date of publication of this fulltext: 03 Feb 2017 12:52
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| Item type | Article | ||||||
| Journal or Publication Title | Journal of Medical Genetics | ||||||
| Publisher: | BMJ PUBLISHING GROUP | ||||||
|---|---|---|---|---|---|---|---|
| Place of Publication: | LONDON | ||||||
| Volume: | 53 | ||||||
| Number of Issue or Book Chapter: | 6 | ||||||
| Page Range: | pp. 419-425 | ||||||
| Date | 2016 | ||||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||||
| Identification Number |
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| Keywords | RNA EXOSOME; COMPLEX; HYPOPLASIA; SUBUNITS; DISEASE; | ||||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||||
| Status | Published | ||||||
| Refereed | Yes, this version has been refereed | ||||||
| Created at the University of Regensburg | Partially | ||||||
| Item ID | 35132 |
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