Presentation Information
[P2-03-06]A Novel TFE3 Missense Variant in a Male Patient with TFE3-Related Neurodevelopmental Disorder: Genetic Counseling
Mariko Endou1, Hirofumi Kashii2, Hisato Suzuki3, Daisuke Nakafuji3, Toshiki Takenouchi3, Haruka Yamanaka1, Kentaro Hukuda1, Kenjiro Kosaki3, Hiroshi Yoshihasi1 (1. Department of Clinical Genetics, Tokyo Metropolitan Childrens Medical Center, 2. Department of Neurology, Tokyo Metropolitan Childrens Medical Center, Tokyo, Japan, 3. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan)
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