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Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy

PURPOSE: To define characteristic ocular features in a group of patients with autosomal recessive (AR) PROM1 cone-rod dystrophy (CRD). METHODS: Three males and one female from three unrelated families were first seen at the ages of 15 to 22 years and diagnosed with CRD. Clinical testing available fo...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Invest Ophthalmol Vis Sci
Prif Awduron: Collison, Frederick T., Fishman, Gerald A., Nagasaki, Takayuki, Zernant, Jana, McAnany, J. Jason, Park, Jason C., Allikmets, Rando
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Association for Research in Vision and Ophthalmology 2019
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6538366/
https://ncbi.nlm.nih.gov/pubmed/31136651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.19-26993
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