Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations
Purpose: To investigate the association between novel PAX6 mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus. Observations: This is a retrospective observational case series in a multi-center setting with genetic testing. Three female pa...
| Главные авторы: | , , , , , , , |
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| Формат: | Статья |
| Язык: | English |
| Опубликовано: |
Elsevier
2018-06-01
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| Серии: | American Journal of Ophthalmology Case Reports |
| Online-ссылка: | http://www.sciencedirect.com/science/article/pii/S2451993617302578 |