A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report - Shang, Liyuan; Shi, Weizhe; Xu, Yibo; Nong, Tianying; Li, Xia; Li, Zhaohui; Liu, Yanhan; Li, Jingchun; Tang, Ya-Ping; Zhu, Mingwei; Xu, Hongwen (Heliyon, 2024)
Keywords: acid treatment; bone density; bone formation; boys; Bruck syndrome; Case Report; case studies; China; computer simulation; contracture; exons; FKBP10; heterozygosity; Osteogenesis imperfecta; osteopenia; pathogenicity; patients; stop codon; Whole-exome sequencing; China; Osteogenesis imperfecta; FKBP10; Bruck syndrome; Case report; Whole-exome sequencing