Article
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Clinical genetics - 1 Jul 2024
Jordan Pénélope, Verebi Camille, Hervé Bérénice, Perol Sandrine, Chakhtoura Zeina, Courtillot Carine, Bachelot Anne, Karila Daphné, Renard Céline, Grouthier Virginie, de la Croix Stanislas Mulot, Bernard Valérie, Fouveaut Corinne, de la Perrière Aude Brac, Jonard-Catteau Sophie, Touraine Philippe, Plu-Bureau Geneviève, Dupont Jean Michel, Christin-Maitre Sophie, Bienvenu Thierry
Abstract excerpt
Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) in humans, an autosomal dominant condition. Two forms of BPES have emerged: (i) type I (BPES-I), characterized by ocular signs and primary ovarian failure (POI), and (ii) type II (BPES-II) with no systemic associations. This study aimed to compare the distribution of FOXL2 variants...
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