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Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families
Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the se...
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| Veröffentlicht in: | Mol Syndromol |
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| Hauptverfasser: | , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
S. Karger AG
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4281578/ https://ncbi.nlm.nih.gov/pubmed/25565926 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000369108 |
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