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

Synofzik, Matthis; vom Hagen, Jennifer Mueller; Haack, Tobias B.; Wilhelm, Christian; Lindig, Tobias; Beck-Woedl, Stefanie; Nabuurs, Sander B.; van Kuilenburg, Andre B. P.; de Brouwer, Arjan P. M.; Schoels, Ludger

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