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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

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Description scientific article
Author/s

author: Sander B Nabuurs  Jennifer Müller Vom Hagen  Ludger Schöls  Arjan P M de Brouwer  André B P van Kuilenburg  Matthis Synofzik 

Publication date 2014
Language English
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