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Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient

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References

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Authors and Affiliations

  1. Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, via Roma 67, 56126, Pisa, Italy

    E. Merico, E. Schirinzi, A. Govoni & G. Siciliano

  2. Laboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy

    F. Baldinotti

Authors
  1. E. Merico
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  2. E. Schirinzi
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  3. F. Baldinotti
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  4. A. Govoni
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  5. G. Siciliano
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Corresponding author

Correspondence to E. Merico.

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The authors have no relevant financial or nonfinancial relationships to disclose.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institution.

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Informed consent for the patient included in the case report was obtained from the patient.

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Merico, E., Schirinzi, E., Baldinotti, F. et al. Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient. Acta Neurol Belg 123, 2031–2033 (2023). https://doi.org/10.1007/s13760-022-02093-x

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  • DOI: https://doi.org/10.1007/s13760-022-02093-x

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