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Article

Modifiers and their impact on inherited retinal diseases: a review.

Ophthalmic genetics - 1 Feb 2025

Ford Laura M, Petersen-Jones Simon M

Abstract excerpt

BACKGROUND: The phenotypic variability of inherited conditions can be due to several factors including environmental, epigenetic, and genetic. One of those genetic factors is the presence of modifying loci which alter the phenotypic expression of a primary disease or phenotype-causing variant. Modifiers are known to affect penetrance, dominance, expressivity, and pleiotropy of disease. METHODS: We review the...

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PMID: 39780424
DOI: 10.1080/13816810.2024.2445221

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