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

Authors

  • Matthis Synofzik Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, GermanyGerman Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany PubMed articlesGoogle scholar articles
  • Christoph Kernstock Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany PubMed articlesGoogle scholar articles
  • Tobias B Haack Institute of Human Genetics, Technische Universität München, Munich, GermanyInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany PubMed articlesGoogle scholar articles
  • Ludger Schöls Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, GermanyGerman Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Matthis Synofzik, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, Hoppe-Seyler-Straße 3, University of Tübingen, Tübingen 72076, Germany; matthis.synofzik{at}uni-tuebingen.de
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Citation

Synofzik M, Kernstock C, Haack TB, et al
Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations

Publication history

  • Received February 19, 2014
  • Revised March 29, 2014
  • Accepted April 7, 2014
  • First published April 30, 2014.
Online issue publication 
April 13, 2015

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