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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...
Gorde:
| Argitaratua izan da: | Mol Genet Genomic Med |
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| Egile Nagusiak: | , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
John Wiley and Sons Inc.
2020
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| Gaiak: | |
| Sarrera elektronikoa: | 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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