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...

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Bibliographic Details
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
Format: Article
Language:English
Published: Wiley 2023-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.2122