Disease: Cataract congenital autosomal dominant
- A Case Report of a Filipino Boy with Childhood Cataract and Clinically Diagnosed Roberts Syndrome
- A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts
- A mutated CRYGD associated with congenital coralliform cataracts in two Chinese pedigrees
- A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family
- A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract
- A Novel CRYBB2 Silent Variant in Autosomal Dominant Congenital Cataracts (ADCC) in Pakistani families
- A novel F30S mutation in gammaS-crystallin causes autosomal dominant congenital nuclear cataract by increasing susceptibility to stresses
- A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family
- A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family
- A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract
- A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract
- A Novel Mutation in <em>CRYGC</em> Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea
- A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea
- A Novel Mutation in the FYCO1 Gene Causing Congenital Cataract: Case Study of a Chinese Family
- A novel phenotype associated with the R162W variant in the <em>KCNJ13</em> gene
- A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family
- A novel variant in PAX6 as the cause of aniridia in a Chinese family
- A Rare Case of Achondroplasia With Bilateral Developmental Cataract
- A recurrent variant in <em>LIM2</em> causes an isolated congenital sutural/lamellar cataract in a Japanese family
- A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family
- Abnormal function of EPHA2/p.R957P mutant in congenital cataract
- Allelic and dosage effects of NHS in X-linked cataract and Nance-Horan syndrome: a family study and literature review
- An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
- An uncommon presentation of WAGR syndrome with persistent fetal vasculature
- Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India
- AQP5 regulates vimentin expression via miR-124-3p.1 to protect lens transparency
- Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report
- Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge
- Brazilian family with hyperferritinemia-cataract syndrome: case report
- Broadening the Mutation Spectrum in <em>GJA8</em> and <em>CHMP4B</em>: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families
- Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families
- Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
- Congenital cataract: a guide to genetic and clinical management
- Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the <em>CREBBP</em> gene
- Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
- Congenital Myotonic Dystrophy
- Congenital Myotonic Dystrophy
- Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in the LIM2 gene in four Chinese families with congenital cataracts
- EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families
- Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review
- First Case of a Dominant De Novo <em>SEC23A</em> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review
- First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review
- First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the <em>ZEB2</em> Gene Observed in Mowat-Wilson Syndrome
- First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome
- Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing
- Generation and mutational analysis of a transgenic murine model of the human MAF mutation
- Genetic disease is a common cause of bilateral childhood cataract in Denmark
- Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families
- GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery
- Heterozygous variants of CLPB are a cause of severe congenital neutropenia
- Identification and characterization of six beta-crystallin gene mutations associated with congenital cataract in Chinese families
- Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr
- Identification of a Missense Mutation in <em>GJA8</em> Gene in an Iranian Family with Autosomal Dominant Congenital Cataract
- Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract
- Identification of novel cis-mutations in the <em>GJA8</em> gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract
- Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract
- Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing
- Infantile hemiparesis and porencephaly due to a COL4A1 mutation: Gould syndrome
- Investigating the Clinical Characteristics and <em>PITX3</em>Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract
- Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract
- Loss of fiber cell communication may contribute to the development of cataracts of many different etiologies
- Macronodular adrenal hyperplasia causing Cushing's syndrome due to ARMC5 gene mutation.
- Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families
- Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in <em>GJA8</em> and <em>GJA3</em>
- Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3
- Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts
- Multimorbidity due to novel pathogenic variants in the <em>WFS1/RP1/NOD2</em> genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family
- Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family
- Mutation screening in autosomal dominant congenital cataract families from North India
- Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts
- Myosin Heavy Chain 9 (MYH9)-Related Congenital Macrothrombocytopenia
- National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician
- Novel <em>CRYGC</em> Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract
- Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India
- Novel compound heterozygous variant of <em>GJA8</em> gene in two siblings with congenital cataract mimics an autosomal recessive trait
- Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait
- 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
- Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract
- Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants
- Novel MIP gene mutation causes autosomal-dominant congenital cataract
- Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia
- Novel mutation of GJA8 in autosomal dominant congenital cataracts
- Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome
- Pathogenic variants in the <em>CYP21A2</em> gene cause isolated autosomal dominant congenital posterior polar cataracts
- Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts
- Pediatric Cataract
- Phenotype of an autosomal dominant congenital cataract in siblings
- Posterior Polar Cataract
- Posterior Polar Cataract
- Prenatal ultrasound findings of X-linked congenital cataracts: case report and description of a novel variant
- Ptosis Correction
- Ptosis Correction
- Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract
- Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region
- Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child
- The genetic landscape of crystallins in congenital cataract
- Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1
- Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts
- Whole-exome sequencing identification of a recurrent <em>CRYBB2</em> variant in a four-generation Chinese family with congenital nuclear cataracts
- Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts