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Article

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.

Investigative ophthalmology & visual science - 2 May 2022

Vázquez-Domínguez Irene, Li Catherina H Z, Fadaie Zeinab, Haer-Wigman Lonneke, Cremers Frans P M, Garanto Alejandro, Hoyng Carel B, Roosing Susanne

Abstract excerpt

Purpose: Inherited retinal diseases are a group of clinically and genetically heterogeneous disorders with approximately 270 genes involved. IMPG2 is associated with adult-onset vitelliform macular dystrophy. Here, we investigated two unrelated patients with vitelliform macular dystrophy to identify the underlying genetic cause. Methods: Whole-exome sequencing identified a putative causal complex allele...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35608844
DOI: 10.1167/iovs.63.5.27
PMCID: PMC9150824

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