Retinal Detachment Present at Birth in an Infant With a Novel CTNNB1 Mutation
A full-term neonate was diagnosed on birth with a unilateral total retinal detachment. The contralateral eye had extensive fibrovascular proliferation, temporal dragging, and peripheral nonvascularized retina. Genetic testing confirmed a mutation in the CTNNB1 gene, which has been associated with fa...
| Veröffentlicht in: | Ophthalmic surgery, lasers & imaging retina. - 2013. - 53(2022), 7 vom: 20. Juli, Seite 403-405 |
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| Format: | Online-Aufsatz |
| Sprache: | English |
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2022
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| Zugriff auf das übergeordnete Werk: | Ophthalmic surgery, lasers & imaging retina |
| Schlagworte: | Case Reports Journal Article CTNNB1 protein, human beta Catenin |
| Online verfügbar |
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