Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report
A structural abnormality or dysfunction of podocytes is the major cause of nephrotic syndrome (NS). The TBC1D8B protein interacts with nephrin, a podocyte slit diaphragm protein, regulates vesicle transport, and functions in the pathogenesis of NS. We report a novel potentially pathogenic variant in...
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| Main Authors: | , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2021-11-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |