Article

Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a family

2024-08-11

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Lowe syndrome is a rare X-linked recessive genetic disease characterized by congenital binocular cataracts, central nervous system developmental delay, and progressive renal failure caused by tubular injury. Mutations in the OCRL gene can lead to two diseases: Dent-2 syndrome and Lowe syndrome. <bold>Case introduction</bold>: Two boys from a family have similar c...

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Literature Corpus work: 24e088dd-4151-5812-86d7-c39f7d9e9594
DOI: 10.21203/rs.3.rs-4677145/v1

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