Funding for this research was provided by:
Center for Clinical and Translational Sciences (UL1TR001881)
Interdisziplinäres Zentrum für Klinische Forschung, Universitätsklinikum Erlangen (E31)
Received: 10 December 2020
Accepted: 15 February 2021
First Online: 18 March 2021
Ethics approval and consent to participate
: The study was approved by the ethical committee of the Friedrich-Alexander-Universität Erlangen-Nürnberg (253_15 B, 71_17 B), and by local ethics boards of the contributing institutions.
: All parents or the legal guardians gave written informed consent before enrollment, including consent to publish clinical pictures of the six patients shown in Figs. InternalRef removed and InternalRef removed.
: The authors MJGS, LBH, TBP, SVM, HZE and AdR are employees of GeneDX, Inc. All other authors declare to have no competing interests.