Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant

BACKGROUND: Bruck 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 cl...

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Detalles Bibliográficos
Autores principales: Wang, Ruo-li, Ruan, Dan-dan, Hu, Ya-nan, Gan, Yu-mian, Lin, Xin-fu, Fang, Zhu-ting, Liao, Li-sheng, Tang, Fa-qiang, He, Wu-bing, Luo, Jie-wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120662/
https://www.ncbi.nlm.nih.gov/pubmed/35601416
http://dx.doi.org/10.3389/fped.2022.878172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120662/
https://www.ncbi.nlm.nih.gov/pubmed/35601416
http://dx.doi.org/10.3389/fped.2022.878172

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