Blepharophimosis Latest Advances
Find the Latest Research About Blepharophimosis
Last Updated: 06/30/2026
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Found 602 publications
A New Constitutive Foxl2-Cre Mouse Model Reveals Foxl2-Derived Cell Fate in Reproductive and Non-Reproductive Tissues.
Journal: Biology of reproduction
Published: February 26, 2026
Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.
Journal: BMJ case reports
Published: February 25, 2026
Bilateral Fist Lid-Lift: A Novel Compensatory Behavior in an Infant with Blepharophimosis Syndrome.
Journal: Children (Basel, Switzerland)
Published: February 16, 2026
Syndrome of the Month: Van den Ende-Gupta Syndrome: Gestalt Diagnosis, Outcomes, and Recommendations.
Journal: American journal of medical genetics. Part A
Published: January 21, 2026
Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 -Related Developmental Disorders.
Journal: American journal of medical genetics. Part A
Published: January 16, 2026
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in FOXL2: diagnostic challenges with NGS.
Journal: BMJ case reports
Published: August 26, 2025
Sequential correction of blepharophimosis syndrome: comparison of anatomical outcomes for surgery before and after 24 months of age.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: August 13, 2025
Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients.
Journal: Molecular cytogenetics
Published: August 01, 2025
Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review.
Journal: American journal of medical genetics. Part A
Published: June 20, 2025
One-stage versus two-stage surgical correction of blepharophimosis-ptosis-epicanthus inversus syndrome: a retrospective comparative study.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: June 14, 2025
Chromosome 3q22.2-q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, Pierre Robin Sequence, and Recurrent Infections.
Journal: American journal of medical genetics. Part A
Published: May 03, 2025
Last Updated: 06/30/2026