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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Bibliografiset tiedot
Julkaisussa:Int J Mol Sci
Päätekijät: Hufendiek, Karsten, Hufendiek, Katerina, Jägle, Herbert, Stöhr, Heidi, Book, Marius, Spital, Georg, Rustambayova, Günay, Framme, Carsten, Weber, Bernhard H. F., Renner, Agnes B., Kellner, Ulrich
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2020
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Article
Linkit: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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