Blepharophimosis Latest Advances

Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations.

Journal: Ophthalmic genetics

Published: August 10, 2026

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

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

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

Journal: American journal of medical genetics. Part A

Published: December 01, 2025

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Journal: Human mutation

Published: October 26, 2025

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

Restrictive Dermopathy in Neonates.

Journal: Indian journal of pediatrics

Published: June 21, 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

Blepharophimosis Latest Advances

Find the Latest Research About Blepharophimosis

Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations.

Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations.

A New Constitutive Foxl2-Cre Mouse Model Reveals Foxl2-Derived Cell Fate in Reproductive and Non-Reproductive Tissues.

A New Constitutive Foxl2-Cre Mouse Model Reveals Foxl2-Derived Cell Fate in Reproductive and Non-Reproductive Tissues.

Bilateral Fist Lid-Lift: A Novel Compensatory Behavior in an Infant with Blepharophimosis Syndrome.

Bilateral Fist Lid-Lift: A Novel Compensatory Behavior in an Infant with Blepharophimosis Syndrome.

Syndrome of the Month: Van den Ende-Gupta Syndrome: Gestalt Diagnosis, Outcomes, and Recommendations.

Syndrome of the Month: Van den Ende-Gupta Syndrome: Gestalt Diagnosis, Outcomes, and Recommendations.

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 -Related Developmental Disorders.

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 -Related Developmental Disorders.

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

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

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

Sequential correction of blepharophimosis syndrome: comparison of anatomical outcomes for surgery before and after 24 months of age.

Sequential correction of blepharophimosis syndrome: comparison of anatomical outcomes for surgery before and after 24 months of age.

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients.

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients.

Restrictive Dermopathy in Neonates.

Restrictive Dermopathy in Neonates.

Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review.

Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review.