中枢结节硬化

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Central Nervous System

南京医科大学一附院放射科 洪汛宁hongxunning@sina.com
Tuberous Sclerosis
Tuberous sclerosis is a genetic disorder affecting cellular differentiation and proliferation, which results in hamartoma formation in many organs (eg, skin, brain, eye, kidney, heart).
Pathophysiology
The inheritance is autosomal dominant, while up to 50-70% of cases have been attributed to new mutations. Two genetic loci have been identified so far. The first gene maps to chromosome 9, specifically 9q34 (TSC1); t ...

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关键词：Physiology chromosome identified formation attribute