Presentation Information
[P2-02-1]A Japanese individual with Bryant-Li-Bhoj neurodevelopmental syndrome due to a de novo H3-3A pathogenic variant
Eriko Nishi1, Kumiko Yanagi2, Tadashi Kaname2, Nobuhiko Okamoto1 (1.Department of Medical Genetics, Osaka Womenʼs and Childrenʼs Hospital, Osaka, Japan, 2.Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan)
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