Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant
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...
Main Authors: | Ruo-li Wang, Dan-dan Ruan, Ya-nan Hu, Yu-mian Gan, Xin-fu Lin, Zhu-ting Fang, Li-sheng Liao, Fa-qiang Tang, Wu-bing He, Jie-wei Luo |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-05-01
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Series: | Frontiers in Pediatrics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.878172/full |
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