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A novel compound heterozygous mutation of C20orf54 gene associated with Brown–Vialetto–Van Laere syndrome in an Italian family

Authors

  • M. Bandettini di Poggio,

    1. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
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    • MBdP, SG, AS and CC contributed equally to this study.

  • S. Gagliardi,

    Corresponding author
    1. Laboratory of Experimental Neurobiology, ‘C. Mondino’ National Institute of Neurology Foundation, IRCCS, Pavia, Italy
    • Correspondence: S. Gagliardi, Laboratory of Experimental Neurobiology, IRCCS National Neurological Institute ‘C. Mondino’ Foundation, Pavia, Italy (tel.: 0039 0382 380396; fax: 0039 0382 380325; e-mail: stella.gagliardi@mondino.it).

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    • MBdP, SG, AS and CC contributed equally to this study.

  • M. Pardini,

    1. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
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  • E. Marchioni,

    1. Department of General Neurology, ‘C. Mondino’ National Institute of Neurology Foundation, IRCCS, Pavia, Italy
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  • M. Monti Bragadin,

    1. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
    2. Don Carlo Gnocchi Onlus Foundation, Milan, Italy
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  • L. Reni,

    1. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
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  • L. Doria-Lamba,

    1. Children Neuropsychiatry Operative Unit, G. Gaslini Institute, Genoa, Italy
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  • L. Roccatagliata,

    1. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
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  • M. Ceroni,

    Corresponding author
    1. Department of General Neurology, ‘C. Mondino’ National Institute of Neurology Foundation, IRCCS, Pavia, Italy
    2. Don Carlo Gnocchi Onlus Foundation, Milan, Italy
    3. Children Neuropsychiatry Operative Unit, G. Gaslini Institute, Genoa, Italy
    4. Department of Public Health, Neuroscience, Experimental and Forensic Medicine, University of Pavia, Pavia, Italy
    • Correspondence: S. Gagliardi, Laboratory of Experimental Neurobiology, IRCCS National Neurological Institute ‘C. Mondino’ Foundation, Pavia, Italy (tel.: 0039 0382 380396; fax: 0039 0382 380325; e-mail: stella.gagliardi@mondino.it).

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  • A. Schenone,

    1. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
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    • MBdP, SG, AS and CC contributed equally to this study.

  • C. Cereda

    1. Laboratory of Experimental Neurobiology, ‘C. Mondino’ National Institute of Neurology Foundation, IRCCS, Pavia, Italy
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    • MBdP, SG, AS and CC contributed equally to this study.


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