Article

NOD2 Genes Mutation in a Blau Syndrome Accompany with Congenital Hyperuricemia: A Case Report

2022-01-10

Abstract excerpt

<title>Abstract</title> <p><bold>Rationale: </bold>Blau syndrome (BS) is a chronic auto-inflammatory granulomatous disorder associated with the nucleotide-binding oligomerization domain-containing 2 (NOD2) gene mutations. Gene mutation is one cause of congenital hyperuricemia, However, the relationship between NOD2 and hyperuricemia was unknown. <bold>Patient concerns: </bold>A 3.5-year-old girl was admitted to h...

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Literature Corpus work: 1b932e04-5575-5f81-b87f-a135c4e50872
DOI: 10.21203/rs.3.rs-1228457/v1

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