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Article

Specific retinal phenotype in early IQCB1-related disease.

Eye (London, England) - 1 Mar 2018

Vincent A, AlAli A, MacDonald H, VandenHoven C, Héon E

Abstract excerpt

PurposeTo describe the ocular and systemic phenotype in IQCB1-related disease.MethodsFour cases (3 males, 1 female) with molecularly confirmed IQCB1-related disease underwent ophthalmological examination including best-corrected visual acuity (BCVA) measurement, fundus evaluation, electroretinography (ERG), and spectral-domain optical coherence tomography (SD-OCT). Systemic evaluation including abdominal...

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Share to Calmodulin-Binding Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29219953
DOI: 10.1038/eye.2017.283
PMCID: PMC5848295

Genes

IQCB1
ERG

Provenance

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