Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations
Matthis Synofzik, Christoph Kernstock, Tobias B Haack, Ludger Schöls
Journal of Neurology, Neurosurgery & Psychiatry May 2015, 86 (5) 580-581; DOI: 10.1136/jnnp-2014-307793