Funding for this research was provided by:
Japan Agency for Medical Research and Development (JP17ek0109141, JP18ek0109373)
National Center for Child Health and Development (28-3)
Japan Society for the Promotion of Science (15K15096)
Takeda Science Foundation (No number)
Received: 27 December 2018
Accepted: 28 February 2019
First Online: 7 March 2019
Ethics approval and consent to participate
: Approval to conduct this study was obtained from the Ethical Committee of the Institutional Review Board Committee at the National Center for Child Health and Development (518).
: We obtained written informed consent from the patient or the patient’s parents to publish patient’s clinical and molecular information as well as facial photographs.
: The authors declare that they have no competing interests.
: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.