Funding for this research was provided by:
Horizon 2020 (779257)
Else-Kröner Fresenius Stiftung (N/A)
Received: 9 October 2018
Accepted: 29 March 2019
First Online: 8 April 2019
Ethics approval and consent to participate
: Samples from all affected individuals and family members were recruited in accordance with the principles of the Declaration of Helsinki and were obtained with written informed consent accompanying the patients’ samples. For the probands of family B who are underage, informed consent for participation in this study was obtained from the probands’ parents. The study was approved by the institutional review board of the Ethics Committee of the University Hospital of Tübingen (study number 637/2017BO1, dated October 23, 2017) and the Ethics Committee of the Hamburg Chamber of Physicians (study number PV3802, dated March 1, 2016).
: Both families have given their written consents for the case report to be published. For the probands of family B who are underage, informed consent for publication of this study was obtained from the probands’ parents.
: The authors declare that they have no competing interests.
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