Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations

Bruck syndrome (BS) is a congenital disorder characterized by joint flexion contractures, skeletal dysplasia, and increased bone fragility, which overlaps clinically with osteogenesis imperfecta (OI). On a genetic level, BS is caused by biallelic mutations in either FKBP10 or PLOD2. PLOD2 encodes th...

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Detalles Bibliográficos
Autores principales: Gistelinck, Charlotte, Weis, MaryAnn, Rai, Jyoti, Schwarze, Ulrike, Niyazov, Dmitriy, Song, Kit M, Byers, Peter H, Eyre, David R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990156/
https://www.ncbi.nlm.nih.gov/pubmed/33778323
http://dx.doi.org/10.1002/jbm4.10454

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990156/
https://www.ncbi.nlm.nih.gov/pubmed/33778323
http://dx.doi.org/10.1002/jbm4.10454

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