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Camurati-Engelmann Disease 1
An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones that is caused by domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1) on chromosome 1
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
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Overview
An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones that is caused by domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1) on chromosome 1
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.