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Last Updated: 10/31/2025
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Found 71 publications
Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation.
Journal: Human genomics
Published: February 06, 2025
Lambda-double-fixation for medial epicanthoplasty in Blepharophimosis - Ptosis - Epicanthus Inversus Syndrome.
Journal: Orbit (Amsterdam, Netherlands)
Published: March 21, 2024
Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome.
Journal: Frontiers in genetics
Published: November 23, 2023
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.
Journal: BMC ophthalmology
Published: May 14, 2023
Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome.
Journal: International journal of ophthalmology
Published: December 04, 2022
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: A Simple Remedy for Challenging Cases.
Journal: Cureus
Published: July 28, 2022
Management of blepharophimosis, ptosis, epicanthus inversus syndrome at a referral center in Tunisia
Management of blepharophimosis, ptosis, epicanthus inversus syndrome at a referral center in Tunisia
Journal: Journal francais d'ophtalmologie
Published: December 03, 2019
Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations.
Journal: European journal of medical genetics
Published: March 12, 2019
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature.
Journal: Molecular syndromology
Published: December 17, 2018
Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report.
Journal: BMC medical genetics
Published: October 22, 2018
Last Updated: 10/31/2025