Case report of a child with nephronophthisis from South Africa
Abstract Background Nephronophthisis (NPHP) is an autosomal recessive disorder with a subset of patients presenting with extrarenal manifestations such as retinal degeneration, cerebella ataxia, liver fibrosis, skeletal abnormalities, cardiac malformations, and lung bronchiectasis. However, the invo...
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| Main Authors: | , , |
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| Format: | Book |
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BMC,
2024-07-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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