Genetic Variants in Rare Ophthalmological Syndromes: Novel COL11A1 Splice Site Variant in a Brazilian Family with Stickler Syndrome Type 2
Purpose: To genetically investigate a family with a clinical and ophthalmological phenotype suggestive of Stickler syndrome (STL) and the association of molecular findings with ophthalmological, clinical characteristics, and family history. Methods: Specialized ophthalmologic evaluation using diagno...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-07-01
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| Series: | Journal of Current Ophthalmology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/joco.joco_9_24 |
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