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Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual...
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Titel: |
Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt |
In: | Journal of Medical Genetics, 53, 2016, 6, S. 419-425 |
veröffentlicht: |
BMJ
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Umfang: | 419-425 |
ISSN: |
1468-6244 0022-2593 |
DOI: | 10.1136/jmedgenet-2015-103511 |
Format: | E-Article |
Quelle: | BMJ (CrossRef) |
Sprache: | Englisch |