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- Title:
Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.
- Document type:
- Journal Article
- Author(s):
- Synofzik, Matthis; Kernstock, Christoph; Haack, Tobias B; Schöls, Ludger
- Journal title abbreviation:
- J Neurol Neurosurg Psychiatry
- Year:
- 2015
- Journal volume:
- 86
- Journal issue:
- 5
- Pages contribution:
- 580-1
- Language:
- eng
- Fulltext / DOI:
- doi:10.1136/jnnp-2014-307793
- Pubmed ID:
- http://view.ncbi.nlm.nih.gov/pubmed/24790214
- Print-ISSN:
- 0022-3050
- TUM Institution:
- Institut für Humangenetik
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