Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant

• Main Authors: Ruo-li Wang (Author), Dan-dan Ruan (Author), Ya-nan Hu (Author), Yu-mian Gan (Author), Xin-fu Lin (Author), Zhu-ting Fang (Author), Li-sheng Liao (Author), Fa-qiang Tang (Author), Wu-bing He (Author), Jie-wei Luo (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundBruck syndrome (BS) is a rare autosomal recessive inherited osteogenesis imperfecta disease characterized by increased bone fragility and joint contracture. The pathogenic gene of type I BS is FKBPl0, whereas that of type II BS is PLOD2. No significant difference has been found in the clin...