Article

A novel OPHN1 variant results in a mild form of OPHN1 syndrome characterized by cyclic strabismus

2025-08-19

Abstract excerpt

<title>Abstract</title> <p> Individuals with cyclic strabismus experience the disease in a pattern in which days with or without strabismus alternate in a circadian rhythm-dependent manner. However, the molecular mechanism that underlies this rhythm is unknown. In this study, we link cyclic strabismus to a novel hemizygous variant of the <italic>OPHN1</italic> gene, which encodes a Rho GAP protein, and mutatio...

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Literature Corpus work: ba7de3de-7d27-5668-8149-078a479c6e6d
DOI: 10.21203/rs.3.rs-6684034/v1

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