Article

Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degeneration

2025-05-19

Abstract excerpt

<title>Abstract</title> <p> Inherited retinal degenerations (IRDs) are a group of clinically and genetically heterogeneous blinding disorders. In this retrospective study, we describe five families with non-syndromic IRD in which affected probands carried rare bi-allelic variants in <italic>SCLT1</italic> , a gene previously associated with multiple recessive ciliopathies. Seven of the eight variants identifie...

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Literature Corpus work: 8f7d2828-4f34-5c9f-85db-a6c28013e271
DOI: 10.21203/rs.3.rs-6507107/v1

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