Article

Case Report of a Child with Nephronophthisis from South Africa

2023-10-09

Abstract excerpt

<title>Abstract</title> <p>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 involvement of other organ systems has also been documented. Extrarenal manifestations occur in appr...

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Literature Corpus work: 7bf2f520-6fc1-5ac4-8cd9-0d02cd2cfdaf
DOI: 10.21203/rs.3.rs-3384705/v1

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