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Duchenne muscular dystrophy, a severe genetic disorder. Diagnosis and tests for the disorder.
What Is Osteogensis Imperfecta? Osteogenisis Imperfecta, or OI in short, is a genetic disorder that mainly affects the bone and skeletal structure of a person. The effects include brittleness of the bones, Early loss of hearing and blue sclera. Why Does OI Occur? The main reason of OI occurring is mutations of specific genes, including the COL1A1, COL1A2, CRTAP and LEPRE1 genes. In some cases, OI can occur without parental influ.
People who suffer from OI are born with defective connective tissue, or without the ability to make it. Teeth brittleness is a symptom of OI, so Dental problems can happen. An Egyptian mummy from 1000 BC had OI.
What genetic codes are related? Is there a cure or a treatment? How we can help.