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

One-stage versus two-stage surgical correction of blepharophimosis-ptosis-epicanthus inversus syndrome: a retrospective comparative study.

A rare case of Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) associated with keratoconus: a multidisciplinary approach to diagnosis and management.

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

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.

Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation.

Corrigendum: Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome.

Lambda-double-fixation for medial epicanthoplasty in Blepharophimosis - Ptosis - Epicanthus Inversus Syndrome.

Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome.

Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.

FOXL2: a gene central to ovarian function.

Improvement of 1-Stage Comprehensive Operation Technique for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome.

Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation.

Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.

Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in treatment of Blepharophimosis syndrome.

Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations.

Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome.

Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies.

Planned oocyte cryopreservation in women with blepharophimosis-ptosis-epicanthus inversus syndrome: a case series.

A Novel Forkhead Box L2 Missense Mutation, c.1068G>C, in a Chinese Family With Blepharophimosis/Ptosis/ Epicanthus Inversus Syndrome.

Follicular Dowling-Degos Disease and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: A Chance or Significant Association.

"Blepharophimosis-plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis.

Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome.

Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

Management of congenital lacrimal gland agenesis in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

[Management of blepharophimosis, ptosis, epicanthus inversus syndrome at a referral center in Tunisia].

Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.

A novel FOXL2 mutation in two infertile patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction.

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.

New STAT3-FOXL2 pathway and its function in cancer cells.

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature.

Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.

Genomic Disruption of FOXL2 in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation.

Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

[Analysis of FOXL2 gene mutation and genotype-phenotype correlation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome].

Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.

[Effectiveness of levator muscle resection combined with Mustarde's double Z-plasty for blepharophimosis-ptosis-epicanthus inversus syndrome].

Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element.

Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population.

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.

[Identification of de novo chromosomal structural abnormalities using whole genome sequencing].

Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency.

A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.

SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.

Re: Duarte et al.: Lacrimal gland involvement in blepharophimosis-ptosis-epicanthus inversus syndrome (Ophthalmology. 2017;124:399-406).

Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.

Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome.

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

[Blepharophimosis-ptosis-epicanthus inversus syndrome].

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family.

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.

Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.

The Emerging Role of FOXL2 in Regulating the Transcriptional Activation Function of Estrogen Receptor β: An Insight Into Ovarian Folliculogenesis.

Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl.

[Clinical diagnose and significance of congenital sensorineural hearing loss combined with BPES].

Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.

A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone.

FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice.

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

A Modified One-Stage Early Correction of Blepharophimosis Syndrome Using Tutopatch Slings.

A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome.

A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome.