Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II
Zheng Wang; Mitsuhiro Kometani; Leonid Zeitlin; Yael Wilnai; Akira Kinoshita; Koh-ichiro; Hiroko Ninomiya; Takeshi Imamura; Long Guo; Jingyi Xue; Li Yan; Hirofumi Ohashi; Yann Pretemer; Shunsuke Kawai; Masaaki Shiina; Kazuhiro Ogata; Daniel H. Cohn; Naomichi Matsumoto; Gen Nishimura; Junya Toguchida; Noriko Miyake; Shiro Ikegawa
Journal of Human Genetics, Nov. 2024