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Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes
Optic fissure closure defects result in uveal coloboma, a potentially blinding condition affecting between 0.5 and 2.6 per 10,000 births that may cause up to 10% of childhood blindness. Uveal coloboma is on a phenotypic continuum with microphthalmia (small eye) and anophthalmia (primordial/no ocular...
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| Publicat a: | Exp Eye Res |
|---|---|
| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7310839/ https://ncbi.nlm.nih.gov/pubmed/32032630 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2020.107940 |
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