Clinical features and molecular characterization of Chinese patients with FKBP10 variants

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 recessive...

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Detalles Bibliográficos
Autores principales: Tan, Zhijia, Shek, Hiu Tung, Chen, Peikai, Dong, Zhongxin, Zhou, Yapeng, Yin, Shijie, Qiu, Anmei, Dong, Lina, Gao, Bo, To, Michael Kai Tsun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094084/
https://www.ncbi.nlm.nih.gov/pubmed/36655627
http://dx.doi.org/10.1002/mgg3.2122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094084/
https://www.ncbi.nlm.nih.gov/pubmed/36655627
http://dx.doi.org/10.1002/mgg3.2122

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