• A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report
• A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
• A Novel Frameshift Variant of the <em>MITF</em> Gene in a Chinese Family with Waardenburg Syndrome Type 2
• A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report
• A potential molecular pathogenesis of cardiac/laterality defects in Oculo-Facio-Cardio-Dental syndrome
• A Rare Case of Oculofaciocardiodental Syndrome
• A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts
• A unique hyperdynamic dimer interface permits small molecule perturbation of the melanoma oncoprotein MITF for melanoma therapy
• AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome
• An Extremely Rare Case of Bonneau Syndrome with Novel Cardiac and Eye Manifestations
• Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome
• Analysis of LRP5 gene variants in a Chinese pedigree affected with Osteoporosis-pseudoglioma syndrome
• Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia
• BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells
• BCOR variants are associated with X-linked recessive partial epilepsy
• Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2
• Bosma Arhinia Microphthalmia Syndrome (BAMS): First Report from Vietnam
• Broad Spectrum epidemiological contribution of cannabis and other substances to the teratological profile of northern New South Wales: geospatial and causal inference analysis
• Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?
• Case report: Expansion of phenotypic and genotypic data in <em>TENM3</em>-related syndrome: Report of two cases
• Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
• Clinical characteristics and ophthalmic management of a rare disease cohort of patients with trisomy 13
• Clinical features and orbital anomalies in Fraser syndrome and a review of management options
• Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome
• Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?
• Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms
• Congenital eyelid imbrication syndrome with microphthalmia: a case report
• Cryptophthalmos: associated syndromes and genetic disorders
• Dandy-Walker Variant Associated with Bilateral Congenital Cataract
• Demographics and histopathological characteristics of enucleated microphthalmic globes
• Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series
• Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
• Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait
• Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases
• Eye Abnormalities in Children with Fetal Alcohol Spectrum Disorders: A Systematic Review
• First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
• First Report of Mexican Patients with <em>PACS1</em>-Related Neurodevelopmental Disorder and Review of the <em>PACS1</em>-, <em>PACS2</em>-, and <em>WDR37</em>-Related Ophthalmological Manifestations
• Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with <em>BCOR</em>-associated oculo-facio-cardio-dental (OFCD) syndrome
• Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant
• Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
• Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome
• Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome
• Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing
• Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
• Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II
• Identification of nuclear localization signals within the human BCOR protein
• In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype
• Individuals with heterozygous variants in the Wnt-signalling pathway gene <em>FZD5</em> delineate a phenotype characterized by isolated coloboma and variable expressivity
• Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles
• Is 20/20 visual outcome a reality in rubella cataract? - Prognostic factors in children with cataract associated with congenital rubella syndrome
• Lens-Sparing Surgery for Retrolental Stalk in Persistent Fetal Vasculature
• Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder
• Maternal cytomegalovirus infection and delayed language development in children at 3 years of age-a nested case-control study in a large population-based pregnancy cohort
• Maternal SARS-CoV-2 infection during pregnancy: possible impact on the infant
• MFRP-Related Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome
• Microphthalmia and orbital cysts in DiGeorge syndrome
• Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome
• MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61
• Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event
• Multilevel Stabilization Screws Prevent Proximal Junctional Failure and Kyphosis in Adult Spinal Deformity Surgery: A Comparative Cohort Study
• Multiple pancreatic neuroendocrine tumors in OFCD syndrome caused by somatic BCOR mosaicism
• Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families
• Neonatal Onset Glaucoma in a Case with Gorlin-Goltz Syndrome: An Unusual Association
• Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients
• New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report
• Non-vasogenic cystoid maculopathies
• Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1
• Novel <em>RAB3GAP1</em> Mutation in the First Tunisian Family With Warburg Micro Syndrome
• Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome
• Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome
• Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant
• Ocular Phenotype of Peters-Plus Syndrome
• Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series
• Oculo-facio-cardio Dental Syndrome
• Oculo-facio-cardio-dental (OFCD) syndrome: a case report
• Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion
• Oculo-facio-cardio-dental syndrome caused by <em>BCOR</em> gene mutations: a case report
• Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness
• Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition
• Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells
• OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR
• Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report
• Porcn is essential for growth and invagination of the mammalian optic cup
• PORCN-related microphthalmia with limb anomalies: Case report and literature review
• Posterior Microphthalmos Pigmentary Retinopathy Syndrome
• Posterior Microphthalmos Pigmentary Retinopathy Syndrome with Angle-Closure Glaucoma: A Case Report
• Prenatal Diagnosis of Arhinia
• Progressive Cone-Rod Dystrophy and RPE Dysfunction in <em>Mitf^mi/+</em> Mice
• Ptosis Correction
• Radiculomegaly of canines in oculofaciocardiodental syndrome
• Radiculomegaly: a case report of this rare dental finding with review of the associated oculo-facio-cardio-dental syndrome
• Rapid resolution of severe exudation in uveal effusion syndrome with anti-vascular endothelial growth factor alone in a case of bilateral nanophthalmos: a case report
• Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome
• The association of nausea and vomiting of pregnancy, its treatments, and select birth defects: Findings from the National Birth Defect Prevention Study
• The pro-apoptotic Bax gene modifies susceptibility to craniofacial dysmorphology following gastrulation-stage alcohol exposure
• Three Novel Mutations of Microphthalmos Identified in Two Chinese Families
• Total retinal detachment and contractile movement of the disc in eyes with morning glory syndrome
• UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
• Utility of Anterior Segment Optical Coherence Tomography in Muscle Aplasia
• Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome