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Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene
Autosomal recessive bestrophinopathy (ARB) has been reported as clinically heterogeneous. Eighteen patients (mean age: 22.5 years; 15 unrelated families) underwent ophthalmological examination, fundus photography, fundus autofluorescence, and optical coherence tomography (OCT). Molecular genetic tes...
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| Publicat a: | Int J Mol Sci |
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| Autors principals: | , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7763028/ https://ncbi.nlm.nih.gov/pubmed/33302512 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21249353 |
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