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
M. Synofzik, J. Müller vom Hagen, T. Haack, C. Wilhelm, T. Lindig, S. Beck-Wödl, S. Nabuurs, A. V. van Kuilenburg, A. D. de Brouwer, L. Schöls
Orphanet Journal of Rare Diseases