A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family
Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of hamartomas in multiple organs, including the brain, heart, skin, kidney, lung and retina. A diagnosis of TSC is established with a recently revised clinical/radiological...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2018-05-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |