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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Publicado en:JBMR Plus
Main Authors: Gistelinck, Charlotte, Weis, MaryAnn, Rai, Jyoti, Schwarze, Ulrike, Niyazov, Dmitriy, Song, Kit M, Byers, Peter H, Eyre, David R
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley & Sons, Inc. 2021
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7990156/
https://ncbi.nlm.nih.gov/pubmed/33778323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbm4.10454
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