The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome-Case Series
Background: In clinical practice, the possible diagnosis of tuberous sclerosis or polycystic kidney disease is primarily based on clinical criteria, which can later be verified by genetic testing. But in the case of TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1-CGS), the renal appearance of the dise...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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MDPI AG,
2023-02-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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