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Article

Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

JAMA ophthalmology - 1 May 2024

Cornelis Stéphanie S, IntHout Joanna, Runhart Esmee H, Grunewald Olivier, Lin Siying, Corradi Zelia, Khan Mubeen, Hitti-Malin Rebekkah J, Whelan Laura, Farrar G Jane, Sharon Dror, van den Born L Ingeborgh, Arno Gavin, Simcoe Mark, Michaelides Michel, Webster Andrew R, Roosing Susanne, Mahroo Omar A, Dhaenens Claire-Marie, Cremers Frans P M

Abstract excerpt

Importance: Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy. Objective: To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles. Data Sources: Literature data, data from 2 European centers, and a new study. Data from a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38602673
DOI: 10.1001/jamaophthalmol.2024.0660
PMCID: PMC11009866

Genes

ABCA4
AR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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