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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 novelPRPS1mutation
Synofzik, Matthis, Müller vom Hagen, Jennifer, Haack, Tobias B, Wilhelm, Christian, Lindig, Tobias, Beck-Wödl, Stefanie, Nabuurs, Sander B, van Kuilenburg, André BP, de Brouwer, Arjan PM, Schöls, LudgVolume:
9
Language:
english
Journal:
Orphanet Journal of Rare Diseases
DOI:
10.1186/1750-1172-9-24
Date:
December, 2014
File:
PDF, 447 KB
english, 2014