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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. and Weber, Bernhard H. F. (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, pp. 419-425.

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Abstract

BACKGROUND: Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders. We describe a novel syndrome caused by biallelic mutations in the 'exosome component 2' (EXOSC2) gene. METHODS: Clinical ascertainment of three similar affected patients followed by whole exome sequencing. RESULTS: Three individuals from two unrelated German families presented with ...

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Item type:Article
Date:2016
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1136/jmedgenet-2015-103511DOI
26843489PubMed ID
Keywords:Clinical genetics; EXOSC2; RNA processing; exosome component 2 protein; novel Mendelian 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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