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J. Neurol. Neurosurg. Psychiatr. · May 2015
Case ReportsAtaxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.
- Matthis Synofzik, Christoph Kernstock, Tobias B Haack, and Ludger Schöls.
- Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
- J. Neurol. Neurosurg. Psychiatr.. 2015 May 1;86(5):580-1.
no abstract available
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