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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Detalles Bibliográficos
Autores principales: Hu, Jing, Li, Lu‐jiao, Zheng, Wen‐bin, Zhao, Di‐chen, Wang, Ou, Jiang, Yan, Xing, Xiao‐ping, Li, Mei, Xia, Weibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767536/
https://www.ncbi.nlm.nih.gov/pubmed/33166085
http://dx.doi.org/10.1002/mgg3.1525

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767536/
https://www.ncbi.nlm.nih.gov/pubmed/33166085
http://dx.doi.org/10.1002/mgg3.1525

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