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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Exp Eye Res
Prif Awduron: George, Aman, Cogliati, Tiziana, Brooks, Brian P
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2020
Pynciau:
Mynediad Ar-lein: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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