Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations
N Miyake, Y Tsurusaki, E Koshimizu, N Okamoto, T Kosho, NJ Brown, TY Tan, PJJ Yap, H Suzumura, T Tanaka, T Nagai, M Nakashima, H Saitsu, N Niikawa, N Matsumoto
Clinical Genetics | WILEY-BLACKWELL | Published : 2016
We thank Dr Michelle Fink and Dr Simone Mandelstam who are Specialist Paediatric Radiologists at The Royal Children's Hospital in Melbourne, Australia for their evaluation of the brain imaging of Patient 3. This work is supported by grants from the Ministry of Health, Labour and Welfare (H. S., N. M., and N. M.), the Japan Society for the Promotion of Science [a Grant-in-Aid for Scientific Research (B) (H. S. and N. M.), a Grant-in-Aid for Scientific Research (A) (N. M.)], the fund for Creation of Innovation Centers for Advanced Interdisciplinary Research Areas Program in the Project for Developing Innovation Systems from the Japan Science and Technology Agency (N. M.), the Strategic Research Program for Brain Sciences (N. M.), a Grant-in-Aid for Scientific Research on Innovative Areas (Transcription Cycle) from the Ministry of Education, Culture, Sports, Science and Technology of Japan (N. M. and N. M.), a Grant-in-Aid for challenging Exploratory Research (H. S.), and the Takeda Science Foundation (H. S., N. M., and N. M.).