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Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report
BACKGROUND: Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems in other...
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| Veröffentlicht in: | BMC Med Genet |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5970456/ https://ncbi.nlm.nih.gov/pubmed/29801479 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0579-8 |
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