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Novel heterozygous COL4A2 variant c.2572A > G, p.(I858V) mimicking Sneddon’s and Divry van Bogaert Syndrome

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Authors and Affiliations

  1. Department of Neurology, Alfried Krupp Hospital, Essen, Germany

    Jan K. Focke, Roland Veltkamp & Markus Kraemer

  2. Department of Brain Sciences, Imperial College London, London, UK

    Roland Veltkamp

  3. CENTOGENE GmbH, Rostock, Germany

    Peter Bauer

  4. Department of Neurology, Heinrich Heine University Hospital, Düsseldorf, Germany

    Markus Kraemer

Authors
  1. Jan K. Focke
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  2. Roland Veltkamp
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  3. Peter Bauer
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  4. Markus Kraemer
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Corresponding author

Correspondence to Jan K. Focke.

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Conflicts of interest

Jan K. Focke declares no conflict of interest. Roland Veltkamp has received fees for consulting and speaker honoraria from Bayer, Boehringer Ingelheim, BMS, Pfizer, Daich Sankyo, Portola, Biogen, Medtronic, Morphosys, Amgen as well as research support from Bayer, Boehringer, BMS, Pfizer, Daiichi Sankyo, Medtronic, Biogen outside of the present work. Peter Bauer is employee of Centogene Gmbh. Markus Kraemer has received speaker honoraria from Roche Pharma and Chugai Pharma.

Ethical approval

The case report was conducted in accordance with local ethical requirements.

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The patients gave their written and informed consent for genetic analyses.

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Focke, J.K., Veltkamp, R., Bauer, P. et al. Novel heterozygous COL4A2 variant c.2572A > G, p.(I858V) mimicking Sneddon’s and Divry van Bogaert Syndrome. J Neurol 269, 5153–5156 (2022). https://doi.org/10.1007/s00415-022-11111-0

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  • DOI: https://doi.org/10.1007/s00415-022-11111-0

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