Received: 26 September 2020
Revised: 14 November 2020
Accepted: 16 November 2020
First Online: 8 January 2021
: Studies were independently approved by the review boards of the participating institutions and performed according to local laws: family A: University of Sao Paulo CAAE 77680117.0.0000.5464; family B: Stanford University, IRB 28362; family C: King Faisal Specialist Hospital and Research Centre (KFSHRC) RAC 2121053; family D: German Gene Diagnostic Act (Gendiagnostikgesetz), EK 273072018. Written informed consent was obtained from parents or legal guardians to participate in these studies, giving permission to use patients’ (1) DNA samples for genomic sequencing, (2) blood or skin fibroblasts for establishing cell lines, and (3) photos for research publications and presentations. Mouse Model: All animal use was conducted in accordance with the Animal Welfare Act and the 2013 American Veterinary Medical Association (AVMA) Guidelines on Euthanasia. All studies were done consistent with the Institute for Laboratory Animal Research (ILAR) 8th Revision to the Guide for the Care and Use of Laboratory Animals and in compliance with and with prior approval from the University of California–Davis institutional animal care and use committee (IACUC).
: The authors declare no competing interests.