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- W2022382280 abstract "The blepharophimosis-ptosis-epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus. The condition may occur either as an autosomal dominant trait (blepharophimosis-ptosis-epicanthus inversus syndrome types 1 and 2), or sporadically. Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 is associated with female infertility. Mental subnormality may occur, especially in the sporadic cases. Chromosome analysis from a few patients suggests that the genetic defect causing the syndrome is localized to chromosome 3q22." @default.
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- W2022382280 date "2009-05-27" @default.
- W2022382280 modified "2023-10-10" @default.
- W2022382280 title "Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)" @default.
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- W2022382280 doi "https://doi.org/10.1111/j.1600-0420.1996.tb00680.x" @default.
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