Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology
Purpose: ADAMTS18-related ocular pathology is rare with few described cases. Features include distinctive facies, refractive error, anterior segment dysgenesis, and retinal dystrophy. Previous patients were found to have homozygous variants in ADAMTS18. Here, we present a patient with compound heter...
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| Автори: | , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Elsevier
2025-03-01
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| Серія: | American Journal of Ophthalmology Case Reports |
| Предмети: | |
| Онлайн доступ: | http://www.sciencedirect.com/science/article/pii/S2451993625000155 |
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