Funding for this research was provided by:
Japan Society for the Promotion of Science (16K09640, 17H05085, 17K16071, 16H06750)
Japan Agency for Medical Research and Development (16kk0205001h0001)
Received: 29 November 2017
Accepted: 21 May 2018
First Online: 18 June 2018
Ethics approval and consent to participate
: We obtained written informed consent for genetic analysis from the patient and her parents, in compliance with the Declaration of Helsinki. This consent was approved by the ethical committees of the University of Tokyo Faculty of Medicine and Eskisehir Osmangazi University School of Medicine.
: We obtained written informed consent for the publication of medical data of their child from her parents, in compliance with the Declaration of Helsinki.
: The authors declare that they have no competing interests.
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