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.
| Image |  |
|---|---|
| Description | scientific article published on 3 February 2016 |
| Author/s |
author: William B. Dobyns Barbara Klink Bernhard H Weber Ian A Glass Nataliya Di Donato Andreas Rump |
| Publication date | February 3, 2016 |
| Language | English |
| Country of origin | |
| Wikipedia link | |
| Copyright status | |
| Missing/wrong data? | Edit Wikidata item |