Article

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome

2024-11-15

Abstract excerpt

<title>Abstract</title> <p>Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular diagnosis. We describe a novel autosomal dominant oculo-vertebral-renal (OVR) syndrome in six independent families characterized by colobomatous micr...

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Literature Corpus work: eeb88ab5-c5bd-5a03-9114-38ba6e6f40f7
DOI: 10.21203/rs.3.rs-5375105/v1

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