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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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| Publié dans: | Mol Genet Genomic Med |
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| Auteurs principaux: | , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
John Wiley and Sons Inc.
2020
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| Sujets: | |
| Accès en ligne: | 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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