Imagawa, Eri http://orcid.org/0000-0002-2466-240X
Moreta, Latisha
Misra, Vinod K.
Newman, Claire
Konuma, Tsuyoshi
Oishi, Kimihiko
Article History
Received: 31 March 2023
Revised: 7 May 2023
Accepted: 11 May 2023
First Online: 2 June 2023
Competing interests
: The authors declare no competing interests.
: It was a non-interventional single case report describing clinical data that was collected as part of routine clinical care. No research or non-clinical testing or evaluations were done on the patient or patient-derived samples. IRB approval was not required according to the institution’s policy (Central Michigan University School of Medicine), while written informed consent was obtained from the patient’s parents for the publication as stated above. The original study regarding the functional assays of the p.Pro322Leu variant was approved by the Institutional Review Board of Icahn School of Medicine at Mount Sinai (GCO# 05-1150, HS# 10-00584).
: Written informed consent was obtained from the patient’s parents for the publication of the patient’s clinical information and photographs.