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Article

[Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood].

Klinische Monatsblatter fur Augenheilkunde - 1 Oct 2012

Preising M N, Pasquay C, Friedburg C, Bowl W, Jäger M, Andrassi-Darida M, Lorenz B

Abstract excerpt

BACKGROUND: Autosomal recessive bestrophinopathy (ARB) is associated with mutations in BEST1. ARB is rarely diagnosed compared to BEST1-associated autosomal dominant (a. d.) juvenile vitelliform macular degeneration (Morbus Best, VMD). This is not only due to its low prevalence, but also to the p...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23096145
DOI: 10.1055/s-0032-1327782

Genes

BEST1
ERG
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23096145-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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