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Active filtersEntity: blepharophimosis-ptosis-epicanthus inversus syndrome ×

blepharophimosis-ptosis-epicanthus inversus syndrome

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Articles mentioning blepharophimosis-ptosis-epicanthus inversus syndrome

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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in FOXL2: diagnostic challenges with NGS

bmjcr · abstract · 2025-08-26 · 1 matching annotations

91.6%

BPES blepharophimosis-ptosis-epicanthus inversus syndrome blepharophimosis

…ing diseases with polyalanine tract expansion mutations such as BPES.…