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. (Q48929989)
scientific article published on 3 February 2016
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Current Data About 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.
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(P1932) Ian A Glass
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(P1476) "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" (language: en)
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(P2093) Teresa Neuhann
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Anne-Karin Kahlert
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Karl Hackmann
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Irmingard Neuhann
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Barbora Novotna
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Jens Schallner
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Claudia Krause
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Shawn E Parnell
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Anna Benet-Pages
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Anke M Nissen
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Wolfgang Berger
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Janine Altmüller
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Holger Thiele
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Evelin Schrock
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Andrea Bier
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other details
description scientific article published on 3 February 2016

External Links
(P356) 10.1136/JMEDGENET-2015-103511
(P698) 26843489