Clinical features and molecular characterization of Chinese patients with FKBP10 variants
Abstract Background Osteogenesis imperfecta (OI) is a group of rare skeletal dysplasia. Long bone deformity and scoliosis are often associated with progressively deforming types of OI. FKBP65 (encoded by FKBP10, OMIM *607063) plays a crucial role in the processing of type I procollagen. Autosomal re...
Main Authors: | Zhijia Tan, Hiu Tung Shek, Peikai Chen, Zhongxin Dong, Yapeng Zhou, Shijie Yin, Anmei Qiu, Lina Dong, Bo Gao, Michael Kai Tsun To |
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Format: | Article |
Language: | English |
Published: |
Wiley
2023-04-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.2122 |
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