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Genotypic and Phenotypic Characteristics of 29 Patients With Rare Types of Osteogenesis Imperfecta: Average 5 Years of Follow-Up
Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility and abnormal connective tissue. Ninety percent of OI patients are caused by two mutations of COL1A1 and COL1A2, and more investigation was needed to better understand the rare types of OI. We followed up 29 patie...
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| Vydáno v: | Front Genet |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Frontiers Media S.A.
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8322778/ https://ncbi.nlm.nih.gov/pubmed/34335676 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.622078 |
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