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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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

Author: 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
Tübinger Autor(en):
Lindig, Tobias
Synofzik, Matthis Benjamin
Müller vom Hagen, Jennifer Miriam
Schöls, Ludger
Beck-Wödl, Stefanie
Published in: Orphanet Journal of Rare Diseases (2014), Bd. 9, Article 24
Verlagsangabe: Biomed Central Ltd
Language: English
Full text: http://dx.doi.org/10.1186/1750-1172-9-24
ISSN: 1750-1172
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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