Article

Variant curation of the largest compendium of <i>FOXL2</i> coding and non-coding sequence and structural variants in BPES

2026-03-02

Abstract excerpt

Heterozygous FOXL2 (non-)coding sequence and structural variants (SVs) lead to blepharophimosis, ptosis and epicanthus inversus syndrome (BPES), a rare, autosomal dominant developmental disorder characterized by a completely penetrant eyelid malformation and incompletely penetrant primary ovarian insufficiency (POI). We collected variants from our in-house database, generated via clinical genetic testing and dow...

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Literature Corpus work: 34b024b9-8d84-5781-9b1c-0f78d9bf8afd
DOI: 10.64898/2026.02.24.25339471

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