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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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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| 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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