[2P] Poster Presentation 2

[2P-943] A novel pathogenic missense variant of TAB2 from parental mosaicism identified in a Japanese patient with mitral valve regurgitation, joint laxity, and hearing loss.

○Yumi Enomoto¹, Nobuhiko Okamoto², Yuiko Hasegawa², Kumiko Yanagi¹, Taiga Aoki¹, Masahiko Yamamori¹, Tadashi Kaname^1,3 (1. National Center for Child Health and Development, 2. Osaka Women's and Children's Hospital, 3. Tohoku Univ.)