• 'A child with Malpuech-Michels-Mingarelli-Carnevale syndrome and ADHD and major depressive disorder'
• <em>FOXL2</em>: a gene central to ovarian function
• <em>ITGB5</em> mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome
• <em>MED12</em>-Related (Neuro)Developmental Disorders: A Question of Causality
• "Blepharophimosis-plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis
• A 24-year-Old Male with Marden-Walker Syndrome and Epilepsy: Case Report
• A case of blepharophimosis: Freeman Sheldon syndrome
• A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary?
• A novel COLEC10 mutation in a child with 3MC syndrome
• A Novel Forkhead Box L2 Missense Mutation, c.1068G&gt;C, in a Chinese Family With Blepharophimosis/Ptosis/ Epicanthus Inversus Syndrome
• A Novel Forkhead Box L2 Missense Mutation, c.1068G>C, in a Chinese Family With Blepharophimosis/Ptosis/ Epicanthus Inversus Syndrome
• A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype
• Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies
• Association of keratoconus, blepharophimosis syndrome and hereditary diabetes: Case report
• Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome
• Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge
• Blepharophimosis Syndrome
• Blepharophimosis Syndrome
• Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype
• Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum
• Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: A Simple Remedy for Challenging Cases
• Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With <em>TRAF7</em> Variants
• Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With TRAF7 Variants
• Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton-Brown-Rahman syndrome and Say-Barber -Biesecker-Young-Simpson variant of ohdo syndrome
• Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome
• Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
• Clinical heterogeneity of polish patients with KAT6B-related disorder
• Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome
• Confrontment and solution to gonadotropin resistance and low oocyte retrieval in in vitro fertilization for type I BPES: a case series with review of literature
• Corrigendum: Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome
• De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report
• De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
• Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly
• Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene
• Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene
• Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation
• Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family
• Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family
• Facial and ocular manifestations of male patients affected by the <em>HUWE1</em>-related intellectual developmental disorder
• Follicular Dowling-Degos Disease and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: A Chance or Significant Association
• FOXL2 in adult-type granulosa cell tumour of the ovary: oncogene or tumour suppressor gene?
• Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis
• Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
• Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome
• Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel <em>MASP1</em> Pathogenic Variant in a Male Patient
• Human Genetics of Ventricular Septal Defect
• Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations
• Identification and functional analyses of a novel <em>FOXL2</em> pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome
• Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome
• Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome
• Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome
• Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review
• Improvement of 1-Stage Comprehensive Operation Technique for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
• Improvement of one-stage comprehensive operation technique for blepharophimosis-ptosis-epicanthus inversus syndrome
• Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice
• Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review
• ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome
• Lambda-double-fixation for medial epicanthoplasty in Blepharophimosis - Ptosis - Epicanthus Inversus Syndrome
• Management of blepharophimosis, ptosis, epicanthus inversus syndrome at a referral center in Tunisia
• Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome
• Management of congenital lacrimal gland agenesis in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
• Management of Knee Flexion Contracture in a Child With 3MC Syndrome Using Taylor Spatial Frame
• Marcus Gunn Jaw-Winking Phenomenon and Monocular Elevation Deficiency in Association With Congenital Ptosis
• MARK3 kinase: Regulation and physiologic roles
• MASP1-related 3MC syndrome in a patient from Turkey
• MED12 Mutation in Two Families with X-Linked Ohdo Syndrome
• Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
• Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome
• Mosaicism in <em>BRPF1</em>-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review
• Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay
• Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion
• Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants
• Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome
• Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis
• Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population
• Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
• Ocular Involvement in Systemic Sclerosis: Updated Review and New Insights on Microvascular Impairment
• Outcome of silicone sling frontalis suspension in children with simple congenital and complex ptosis
• Outcomes for expanded polytetrafluoroethylene strip in frontalis suspension surgery
• Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With <em>FOXL2</em> Mutations
• Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations
• Phenotype and genetic variant analysis of seven pedigrees affected with blepharophimosis syndrome
• Planned oocyte cryopreservation in women with blepharophimosis-ptosis-epicanthus inversus syndrome: a case series
• Qualitative and quantitative analysis of MED12 c.887G&gt;A causing both missense and splicing variants in X-linked Ohdo syndrome
• Response to Biesecker et al
• Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology
• Single-triangle technique for congenital ptosis repair with a frontalis sling in blepharophimosis patients
• Spinal anesthesia in a patient with Schwartz-Jampel syndrome
• Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A
• Surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in treatment of Blepharophimosis syndrome
• Symptomatic enophthalmos due to sphenoid wing dysplasia appearing over 12 years in a patient with neurofibromatosis type 1: a case report and literature review
• The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo <em>TRAF7</em> p.Arg655Gln Variant
• The Genetic and Clinical Features of <em>FOXL2</em>-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome
• The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome
• The Genetics and Biology of FOXL2
• The Oncogenic FOXL2 C134W Mutation Is a Key Driver of Granulosa Cell Tumors
• Trichothiodystrophy
• Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome
• Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum
• X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing