| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8792261 | Journal of American Association for Pediatric Ophthalmology and Strabismus | 2017 | 21 Pages |
Abstract
CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities. Additional genetic studies evaluating chimerin 1 (CHN1) and its role in the development of the ocular motor axis are needed to provide new data about these mutations and phenotypic variations.
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Authors
Elif Demirkilinc MD, Orhan MD, Huseyin MD, Onder MD,