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A novel mutation in PLS3 causes extremely rare X‐linked osteogenesis imperfecta

BACKGROUND: Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous bone disease characterized by bone fragility and recurrent fractures. X‐linked inherited OI with mutation in PLS3 is so rare that its genotype–phenotype characteristics are not available. METHODS: We designed...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Hu, Jing, Li, Lu‐jiao, Zheng, Wen‐bin, Zhao, Di‐chen, Wang, Ou, Jiang, Yan, Xing, Xiao‐ping, Li, Mei, Xia, Weibo
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7767536/
https://ncbi.nlm.nih.gov/pubmed/33166085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1525
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