Article
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
JAMA ophthalmology - 1 Oct 2020
Runhart Esmee H, Khan Mubeen, Cornelis Stéphanie S, Roosing Susanne, Del Pozo-Valero Marta, Lamey Tina M, Liskova Petra, Roberts Lisa, Stöhr Heidi, Klaver Caroline C W, Hoyng Carel B, Cremers Frans P M, Dhaenens Claire-Marie
Abstract excerpt
Importance: The mechanisms behind the phenotypic variability and reduced penetrance in autosomal recessive Stargardt disease (STGD1), often a blinding disease, are poorly understood. Identification of the unknown disease modifiers can improve patient and family counseling and provide valuable information for disease management. Objective: To assess the association of incompletely penetrant ABCA4 alleles with sex...
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