Identification and in vivo functional characterization of novel compound heterozygous BMP1 Variants in osteogenesis imperfecta

Sung Yoon Cho, P. V. Asharani, Ok Hwa Kim, Aritoshi Iida, Noriko Miyake, Naomichi Matsumoto, Gen Nishimura, Chang Seok Ki, Geehay Hong, Su Jin Kim, Young Bae Sohn, Sung Won Park, Jieun Lee, Younghee Kwun, Thomas J. Carney, Rimm Huh, Shiro Ikegawa^*, Dong Kyu Jin