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Article

Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.

American journal of ophthalmology - 1 Mar 2014

Sharon Dror, Al-Hamdani Sermed, Engelsberg Karl, Mizrahi-Meissonnier Liliana, Obolensky Alexey, Banin Eyal, Sander Birgit, Jensen Hanne, Larsen Michael, Schatz Patrik

Abstract excerpt

PURPOSE: To investigate the genetic cause and perform a comprehensive clinical analysis of a Danish family with autosomal recessive bestrophinopathy; to investigate whether Bestrophin may be expressed in normal human retina. DESIGN: Retrospective clinical and molecular genetic analysis and immuno...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24345323
DOI: 10.1016/j.ajo.2013.12.010

Genes

BEST1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24345323-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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