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Osteogenesis imperfecta: an update on clinical features …
- https://pubmed.ncbi.nlm.nih.gov/32621590/
- Osteogenesis imperfecta: an update on clinical features and therapies . 2020 Oct;183 (4):R95-R106. doi: 10.1530/EJE-20-0299. Authors Ronit Marom 1 2 , Brien M Rabenhorst …
Osteogenesis imperfecta: clinical diagnosis, …
- https://pubmed.ncbi.nlm.nih.gov/24715559/
- Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic …
Osteogenesis imperfecta-pathophysiology and …
- https://pubmed.ncbi.nlm.nih.gov/32797291/
- Osteogenesis imperfecta (OI) is a rare congenital disease with a wide spectrum of severity characterized by skeletal deformity and increased bone fragility as …
Osteogenesis imperfecta: advancements in genetics and …
- https://pubmed.ncbi.nlm.nih.gov/31693577/
- Ongoing preclinical studies in osteogenesis imperfecta mouse models and clinical studies in individuals with osteogenesis imperfecta have been instrumental in the development …
Adults with Osteogenesis Imperfecta
- https://www.nejm.org/doi/full/10.1056/NEJMicm062996
- Osteogenesis imperfecta is a heritable disorder caused by mutations in the gene for type I …
The management of osteogenesis imperfecta in adults: …
- https://pubmed.ncbi.nlm.nih.gov/30742929/
- Osteogenesis imperfecta (OI) is a genetic disease whose clinical phenotype and severity vary considerably. The increased risk of fractures due to bone fragility persists in …
Osteogenesis Imperfecta | Johns Hopkins Medicine
- https://www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta
- Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that …
(PDF) Osteogenesis Imperfecta
- https://www.researchgate.net/publication/321312402_Osteogenesis_Imperfecta
- Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are …
Osteogenesis Imperfecta: Review of the Literature With …
- https://jamanetwork.com/journals/jamapediatrics/fullarticle/506042
- Medical Journals and Publishing Melanoma Mobile Health and Telemedicine Narrative Medicine Nephrology Neurology Neuroscience and Psychiatry Notable Notes Nursing …
Osteogenesis imperfecta - About the Disease - Genetic …
- https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta/
- Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the development of the bones. People with this condition have bones that break easily, often …
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