Candidate Genes for Non-Syndromic Pediatric Cataracts.

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

[Cockayne syndrome: peculiarities of clinical manifestations and algorithm of observation in childhood].

Anaesthethic management on a pediatric patient with Sengers syndrome. Case report.

Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

A Newborn With Down-Klinefelter Syndrome and Bilateral Congenital Cataracts Harboring a Novel MAPKAPK3 Mutation.

Refractive Changes Associated With Pediatric Kidney Transplantation.

The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.

Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract.

[Genetic analysis of a child with Oculo-facio-cardio-dental syndrome due to a deletional variant of BCOR gene].

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.

The CTDP1 Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches.

Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

P10 Treatment-refractory psoriasiform dermatitis resulting from a rare genetic alteration in MSMO1 with marked improvement with combined cholesterol and statin use.

Identification and Prenatal Evaluation of Suspected Congenital Cataracts: Three Very Different Cases.

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.

The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability.

Phenotype-genotype correlation of patients with congenital cataracts and hair anomalies.

Clinical and Molecular Clues to Diagnosing Hereditary Hyperferritinemia-Cataract Syndrome: Case Report and Literature Review.

Hereditary Hyperferritinemia-Cataract Syndrome: A Pediatric Case Without Congenital Cataract.

Clinical variation in Lowe syndrome: what and how?

Clinical and Molecular Study of a Gorlin Syndrome Type 1 Case.

Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.

Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations.

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.

Novel EP300 and NSD1 variants in Chinese pediatric patients with Rubinstein-Taybi syndrome: evidence for oligogenic inheritance and phenotypic expansion.

Primary Intraocular Lens Insertion in Infants Under 6 Months of Age: A Retrospective Cohort Study.

Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing.

A novel variant of MYH9 mutation associated macro-thrombocytopenia: A case series.

Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.

Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions.

[Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review].

Bilateral Choanal Atresia With Facial Deformity.

Ophthalmic outcomes five years after lensectomy among children with Down syndrome.

Exploring Concomitant Ophthalmic Comorbidities in Portuguese Patients with Inherited Retinal Diseases: A Comprehensive Clinical Study.

Leveraging genetic testing for cataract diagnosis: novel NHS variant guides the diagnosis to Nance-Horan syndrome, a case study.

Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review.

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome.

Foveal hypoplasia in Myhre syndrome: a novel association.

Congenital Rubella Syndrome in the Post-Elimination Era: Why Vigilance Remains Essential.

Baricitinib and Lonafarnib Synergistically Target Progerin and Inflammation, Improving Lifespan and Health in Progeria Mice.

Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.

[Congenital lens malformations].

Next generation sequencing in children with isolated congenital cataract.

[Recent advances in congenital nanophthalmos: a comprehensive literature review].

Outcomes of Penetrating Keratoplasty Versus Lamellar Endothelial Keratoplasty in Iridocorneal Endothelial Syndrome: A Systematic Review and Meta-Analysis.

An 18-month-old girl with Vici syndrome: A case report study.

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.

Mini Lens for Mini Eyes: Management of Congenital Cataract With Microcornea.

Síndrome hereditária hiperferritinemia-catarata: caso clínico.

Novel compound heterozygous variants in SIX6 cause a PAX2 like Dysplastic Optic Disc with macular abnormalities without coexistent microphthalmia or cataract.

A Rare Vitreoretinal Degenerative Disorder: Goldmann-Favre Syndrome Complicated with Choroidal Neovascularization in a Pediatric Patient.

Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype.

Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome.

Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history.

A case series of nine patients with cerebrotendinous xanthomatosis from India and a systematized review of Indian literature.

Bitot-like Spots and Congenital Aniridia: A Case Report.

[Refractory immune thrombocytopenia revealing MYH9 related disease in a 64-year-old man].

A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.

A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype.

Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.

Genomic exploration of pediatric neurological disorders: a case series.

Exome sequencing identifies existing and novel variants in a South African cohort presenting with anterior segment dysgenesis.

TBC1D20 coordinates vesicle transport and actin remodeling to regulate ciliogenesis.

Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Syndromic Retinitis Pigmentosa: A Narrative Review.

A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.

Exploring the safety and feasibility of intracameral Aprokam® (cefuroxime sodium) in pediatric cataract surgery.

Novel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

Deep learning-based assessment of missense variants in the COG4 gene presented with bilateral congenital cataract.

Biochemical and structural characterization of Rab3GAP reveals insights into Rab18 nucleotide exchange activity.

Assessment of Simplified Surveillance for Congenital Rubella Syndrome in Sudan, 2014-2017.

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.

Novel Otolaryngological and Radiological Manifestations in GAPO Syndrome.

Overview of typical dental abnormalities in rare genetic syndromes occurring in the Czech Roma population.

Anesthetic Management of Two Patients With PHARC Syndrome: Case Report.

"A Unique Case of Branchio-Oto-Renal Spectrum Disorder".

Defective Neurogenesis in Lowe Syndrome is Caused by Mitochondria Loss and Cilia-related Sonic Hedgehog Defects.

An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome.

First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view.

Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.

Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC).

Navigating Surgical Challenges: Managing Juvenile Glaucoma in a Patient with Dorfman-Chanarin Syndrome.

Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.

Biallelic pathogenic variants in the LSS gene cause congenital alopecia-cataract syndrome.

An update on autophagy disorders.

Pathobiology of the crystalline lens in Stickler syndrome.

Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients.

Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study.

Posterior subcapsular cataract in a patient with Straatsma syndrome.

Care of children with congenital rubella syndrome (CRS) in Indonesia.

[Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations].

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.

Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome.

Congenital Rubella Syndrome: A Case Report from Somalia.

A nationwide survey of Vici syndrome in Japan.

Discovery of novel disease-causing mutation in SSBP1 and its correction using adenine base editor to improve mitochondrial function.

A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts.

Secondary Glaucoma after Cataract Surgery Performed in Infancy in Congenital Rubella Syndrome: A Case Control Study.

A Case Report of a Filipino Boy with Childhood Cataract and Clinically Diagnosed Roberts Syndrome.

A novel frameshift variant in BCOR causes congenital nuclear cataract.

Aetiology and epidemiology of surgical vitreoretinal presentations in an Australian paediatric population: A seven-year retrospective study.

A Case of Non-Syndromic Congenital Cataracts Caused by a Novel MAF Variant in the C-Terminal DNA-Binding Domain-Case Report and Literature Review.

Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.

Adams-Oliver syndrome associated with refractory glaucoma.

Comparison of Congenital Rubella Syndrome Cases at a Philippine Tertiary Hospital from 2009-2012 to 2019-2022.

Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.

Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.

Indications and Outcomes of Intraocular Lens Explantation in a Tertiary Eyecare Center in Hungary between 2006 and 2020.

Histopathological findings of anterior lens capsule in pediatric cataract.

Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome.

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Clinical Characteristics and Treatment of Ophthalmic Sequelae of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis at a Tertiary Eyecare Centre in Hungary.

Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts.

In vivo quasi-elastic light scattering detects molecular changes in the lenses of adolescents with Down syndrome.

Progress Toward Rubella and Congenital Rubella Syndrome Elimination - Worldwide, 2012-2022.

Steroid induced ocular complications in idiopathic nephrotic syndrome: a cross sectional single center study.

Seroprevalence and risk factors for rubella infection in pregnant women attending a tertiary hospital in Kano-Nigeria.

Novel genetic syndrome manifesting with cerebral atrophy, cataract, hypoacusis, diabetes, and brachy-/syndactyly.

Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome.

A novel frameshift mutation in the NHS gene causes Nance-Horan syndrome in a Chinese family.

Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

Genetic research on Nance-Horan syndrome caused by a novel mutation in the NHS gene.

Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).

Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1.

CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy.

Early Diagnosis of Syndromic Congenital Cataracts in a Large Cohort of Congenital Cataracts.

Oculo-facio-cardio-dental (OFCD) syndrome: a case report.

[Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome].

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.

Predictors of Glaucoma After Pediatric Cataract Surgery.

A Case of Hidradenitis Suppurativa in a Genetically Confirmed Lowe Syndrome Patient.

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child.

Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.

[PETERS ANOMALY AND PETERS PLUS SYNDROME].

A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.

Facial dysmorphism in congenital rubella syndrome.

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.

Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.

Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.

Burden and clinical profile of genetic eye diseases in children in Nigeria: a descriptive cross-sectional study.

Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome.

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.

Brown McLean syndrome after congenital glaucoma surgery, unique case report and a literature review.

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.

An uncommon presentation of WAGR syndrome with persistent fetal vasculature.

Nucleoside analogs NM107 and AT-527 are antiviral against rubella virus.

[Analysis of disease composition and primary surgical procedures in pediatric secondary glaucoma inpatients: a single-center study].

Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.

Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.

Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis.

An incidental finding in prenatal exome sequencing-A case study and review of the clinical and ethical considerations.

First Clinical Report of Two RAB3GAP1 Pathogenic Variant in Warburg Micro Syndrome.

[Macronodular adrenal hyperplasia causing Cushing's syndrome due to ARMC5 gene mutation.].

Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.

Is the NHS's urgent and emergency care plan delivering what patients need?

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Occupational Therapy Intervention in the Child with Leukodystrophy: Case Report.

Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome.

A case of LSS-associated congenital nuclear cataract with hypotrichosis and literature review.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development.

[Staging of aniridia-associated keratopathy].

The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors.

Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report.

Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.

Lowe Oculocerebrorenal Syndrome Comparison of Anterior Segment Anatomy in Eyes with and without Glaucoma.

Lens Coloboma: A Rare Association of Congenital Rubella Syndrome.

A Review of Human Ocular RNA Virus Infections Excluding Coronavirus, Human T-Cell Lymphotropic Virus, and Arboviruses.

Oculofaciocardiodental syndrome caused by a novel BCOR variant.

Intraoperative discovery of lens dislocation in a child with Knobloch syndrome.

Congenital rubella syndrome surveillance in India, 2016-21: Analysis of five years surveillance data.

Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.

Novel compound heterozygous mutations in TELO2 in an infant with You-Hoover-Fong syndrome: A case report and literature review.

Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.

Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome.

Generation and mutational analysis of a transgenic murine model of the human MAF mutation.

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.

Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.

Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series.

Hallermann-Streiff Syndrome in Concordant Monozygotic Twins With Congenital Cataracts, Exudative Retinal Detachments, and One Case of Corneal Perforation Requiring Keratoplasty.

First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.

Corneal ectasia, cerulean (blue dot) cataract with acute hydrops in a child with Down's syndrome and hypothyroidism - a rare presentation.

Ketogenic Diet Attenuates Refractory Epilepsy of Harel-Yoon Syndrome With ATAD3A Variants: A Case Report and Review of Literature.

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.

Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature.

Pyridoxine-Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation.