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Article

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.

International journal of molecular sciences - 8 Dec 2020

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

Abstract excerpt

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 testing of the BEST1 gene was conducted by the chain-terminating dideoxynucleotide Sanger methodology. Onset of...

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Identifiers

PMID: 33302512
DOI: 10.3390/ijms21249353
PMCID: PMC7763028

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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