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Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.

作者信息

Synofzik Matthis, Kernstock Christoph, Haack Tobias B, Schöls Ludger

机构信息

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.

Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

出版信息

J Neurol Neurosurg Psychiatry. 2015 May;86(5):580-1. doi: 10.1136/jnnp-2014-307793. Epub 2014 Apr 30.

DOI:10.1136/jnnp-2014-307793
PMID:24790214
Abstract
摘要

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Elife. 2024 Apr 25;13:e98020. doi: 10.7554/eLife.98020.
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