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

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  • Contributors MS: acquisition of data; design and conceptualisation of the study; drafting the manuscript. CK and TBH: acquisition of data; revising the manuscript. LS: conceptualisation and supervision of the study; revising the manuscript.

  • Competing interests MS received honoraria from Actelion Pharmaceuticals.

  • Patient consent Obtained.

  • Ethics approval Ethics Committee of the University of Tübingen, Germany.

  • Provenance and peer review Not commissioned; externally peer reviewed.