Genetics of the anterior segment dysgenesis
| Autor: | Diego I Paredes, Jenina E Capasso, Celeste S Wyman, Alex V Levin |
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| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Taiwan Journal of Ophthalmology, Vol 13, Iss 4, Pp 500-504 (2023) |
| Druh dokumentu: | article |
| ISSN: | 2211-5056 2211-5072 |
| DOI: | 10.4103/tjo.TJO-D-23-00062 |
| Popis: | The anterior segment dysgeneses are a broad group of heterogeneous disorders characterized by developmental abnormalities of the anterior segment of the eye, including primary congenital aphakia, Peters sequence, aniridia, and Axenfeld–Rieger spectrum. These conditions can have overlapping phenotypes and both genotypic and phenotypic heterogeneity. This article provides a strategy for both phenotyping and then genotyping using a targeted stepwise approach. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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