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 Yoshiura, 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
J Hum Genet. 2024 Nov;69(11):599-605. doi: 10.1038/s10038-024-01274-1. Epub 2024 Jul 16.
PMID: 39014191 DOI: 10.1038/s10038-024-01274-1