Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen

Osteogenesis imperfecta (OI) is a rare inherited connective tissue dysplasia characterized with skeletal fragility, recurrent fractures and bone deformity, predominantly caused by mutations in the genes COL1A1 or COL1A2 that encode the chains of type I collagen. In the present study, clinical manife...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Peikai, Tan, Zhijia, Shek, Hiu Tung, Zhang, Jia-nan, Zhou, Yapeng, Yin, Shijie, Dong, Zhongxin, Xu, Jichun, Qiu, Anmei, Dong, Lina, Gao, Bo, To, Michael Kai Tsun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831862/
https://www.ncbi.nlm.nih.gov/pubmed/35154279
http://dx.doi.org/10.3389/fgene.2022.816078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831862/
https://www.ncbi.nlm.nih.gov/pubmed/35154279
http://dx.doi.org/10.3389/fgene.2022.816078

Ejemplares similares