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Article

Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.

Molecular vision - 1 Jan 2011

Sodi Andrea, Menchini Francesca, Manitto Maria Pia, Passerini Ilaria, Murro Vittoria, Torricelli Francesca, Menchini Ugo

Abstract excerpt

PURPOSE: To report on the phenotype and the genotype of Italian patients carrying BEST1 mutations on both alleles. METHODS: Five Italian patients from four independent pedigrees with retinal dystrophy associated with biallelic BEST1 variants were recruited from different parts of Italy. Molecular genetic analysis of the BEST1 gene was performed with direct sequencing techniques. All the subjects included in the...

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Source

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Identifiers

PMID: 22162627
PMCID: PMC3233384

Genes

BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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