Ocular Involvement in a Pediatric Patient with Geleophysic Dysplasia
Geleophysic dysplasia (GD) is a rare genetic skeletal disorder belonging to the acromelic group, characterized by short stature, distinctive facial features, thickened skin, and progressive cardiac involvement. We report a case of a 3-year-old boy with GD caused by a heterozygous c.5198G>A variant i...
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| Главные авторы: | , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
MDPI AG
2026-01-01
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| Серии: | Diagnostics |
| Предметы: | |
| Online-ссылка: | https://www.mdpi.com/2075-4418/16/2/193 |
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