X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

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dc.contributor.author Lindig, Tobias
dc.contributor.author Synofzik, Matthis
dc.contributor.author Müller vom Hagen, Jennifer Miriam
dc.contributor.author Schöls, Ludger
dc.contributor.author Beck-Wödl, Stefanie
dc.date.accessioned 2014-08-06T09:46:56Z
dc.date.available 2014-08-06T09:46:56Z
dc.date.issued 2014
dc.identifier.issn 1750-1172
dc.identifier.uri http://hdl.handle.net/10900/55265
dc.language.iso en en
dc.publisher Biomed Central Ltd de_DE
dc.relation.uri http://dx.doi.org/10.1186/1750-1172-9-24 de_DE
dc.rights info:eu-repo/semantics/closedAccess
dc.subject.ddc 570 de_DE
dc.subject.ddc 610 de_DE
dc.title X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation de_DE
dc.type Article de_DE
utue.quellen.id 20140610213910_00687 de_DE
utue.personen.roh Synofzik, Matthis
utue.personen.roh vom Hagen, Jennifer Mueller
utue.personen.roh Haack, Tobias B.
utue.personen.roh Wilhelm, Christian
utue.personen.roh Lindig, Tobias
utue.personen.roh Beck-Woedl, Stefanie
utue.personen.roh Nabuurs, Sander B.
utue.personen.roh van Kuilenburg, Andre B. P.
utue.personen.roh de Brouwer, Arjan P. M.
utue.personen.roh Schoels, Ludger
dcterms.isPartOf.ZSTitelID Orphanet Journal of Rare Diseases de_DE
dcterms.isPartOf.ZS-Issue Article 24 de_DE
dcterms.isPartOf.ZS-Volume 9 de_DE
utue.fakultaet 04 Medizinische Fakultät de_DE


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