Funding for this research was provided by:
Initiative on Rare and Undiagnosed Diseases from the Japan Agency for Medical Research and Development (JP21ek0109549)
Practical Research Project for Rare and Intractable Diseases from the Japan Agency for Medical Research and Development (JP21ek0109485)
Received: 15 October 2021
Accepted: 27 December 2021
First Online: 10 January 2022
: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The study was approved by the Bioethics Committee of Keio University school of medicine (No. 20110262). Written informed consent for molecular studies and publication of identifiable images was obtained from the patient’s parents.
: All authors have no conflicts of interest to declare that are relevant to the content of this article.