Yıldız Bölükbaşı, Esra
Karolak, Justyna A.
Szafranski, Przemyslaw
Gambin, Tomasz
Matsika, Admire
McManus, Sam
Scott, Hamish S. http://orcid.org/0000-0002-5813-631X
Arts, Peer http://orcid.org/0000-0002-6742-6239
Ha, Thuong
Barnett, Christopher P.
Rodgers, Jonathan
Stankiewicz, Paweł http://orcid.org/0000-0002-6456-7490
Article History
Received: 11 February 2022
Revised: 22 June 2022
Accepted: 11 July 2022
First Online: 28 July 2022
Competing interests
: The authors declare no competing interests.
: The initial diagnosis in the proband was performed as part of the NHMRC and GHFM-MRFF funded Genomic Autopsy Study and was approved by the Human Ethics Committee of the Women’s and Children’s Health Network, South Australia, Australia (HREC/15/WCHN/35) and the Melbourne Health Human Research Ethics Committee as part of the Australian Genomics Health Alliance protocol: HREC/16/MH/251. Informed consent for genomic analysis and participation in study protocols was obtained from parents, and all research was conducted in accordance with the Declaration of Helsinki. The study research protocols were approved by the Institutional Review Board for Human Subject Research at Baylor College of Medicine (H-8712). Informed consent was obtained from all participants prior to genetic testing.