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

J. Neurol. Neurosurg. Psychiatr. 86, 580-581 (2015)
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Open Access Green as soon as Postprint is submitted to ZB.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Cerebellar Ataxia ; Cerebellar Degeneration ; Movement Disorders ; Neurogenetics ; Neuroophthalmology
Reviewing status