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The American Journal of Human Genetics, ISSN 0002-9297, 11/2012, Volume 91, Issue 5, pp. 942 - 949
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2018, Volume 19, Issue 1, pp. 190 - 190
BackgroundCongenital cataract is the leading cause of blindness in children worldwide. Approximately half of all congenital cataracts have a genetic basis.... 
Congenital cataracts | CRYAA gene | Mutation | HUMAN LENS | DOMAIN | VISION | B-CRYSTALLIN | STABILITY | CRYGD | GENETICS & HEREDITY | PROTEINS | ALPHA-A-CRYSTALLIN | PROMOTES | AGGREGATION | Genetic Testing | Exons | Microphthalmos - genetics | Humans | Cataract - pathology | Male | Microphthalmos - pathology | Mutation, Missense | Cataract - ethnology | Microphthalmos - diagnosis | Protein Aggregation, Pathological - pathology | Base Sequence | China | HEK293 Cells | Chromosome Disorders - diagnosis | Adult | Female | Protein Aggregation, Pathological - diagnosis | Child | Protein Aggregation, Pathological - genetics | Chromosome Disorders - pathology | Gene Expression | Cataract - diagnosis | Chromosome Disorders - ethnology | Crystallins - genetics | Asian Continental Ancestry Group | Microphthalmos - ethnology | Polymorphism, Restriction Fragment Length | Pedigree | Cataract - genetics | Heterozygote | HeLa Cells | Protein Aggregation, Pathological - ethnology | Chromosome Disorders - genetics | Cataract | Genetic aspects | Microphthalmos | Gene mutations | Health aspects | Crystalline lens | Cataracts | Aggresomes | Genes | Leucine | Western blotting | Genotype & phenotype | Arginine | Peripheral blood | Children | Localization | Deoxyribonucleic acid--DNA | Phenotypes | Congenital diseases | Solubility | Heat shock proteins | Molecular modelling | Crystallin | Restriction fragment length polymorphism | Plasmids | Blindness | Protein interaction | Immunofluorescence | Microphthalmia | Index Medicus
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 11/2018, Volume 136, Issue 11, pp. 1295 - 1296
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 6, pp. 1179 - 1187
Journal Article
Molecular vision, ISSN 1090-0535, 2019, Volume 25, Issue 1, pp. 129 - 142
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, pp. e0159639 - e0159639
Microphthalmia is characterized by abnormally small eyes and usually retinal dysplasia, accounting for up to 11% of the blindness in children. Right now there... 
WNT PATHWAY | MULTIDISCIPLINARY SCIENCES | GANGLION-CELLS | LENS DEVELOPMENT | NEURAL RETINA | MOUSE RETINA | DIFFERENTIATION | BETA-CATENIN | EXPRESSION | ZEBRAFISH RETINA | SONIC-HEDGEHOG | Retina - metabolism | Retina - growth & development | Retinal Dysplasia - metabolism | Zinc Finger Protein Gli2 | Retinal Dysplasia - veterinary | Zinc Finger Protein Gli3 | Male | Microphthalmos - pathology | Microphthalmos - metabolism | Wnt Proteins - metabolism | Embryo, Mammalian - metabolism | Ectoderm - metabolism | In Situ Hybridization | Retinal Dysplasia - pathology | Smad4 Protein - genetics | Kruppel-Like Transcription Factors - metabolism | Female | Cell Differentiation | Microphthalmos - veterinary | Real-Time Polymerase Chain Reaction | Wnt Signaling Pathway | Mice, Transgenic | Smad4 Protein - metabolism | Mice, Knockout | Nerve Tissue Proteins - metabolism | Animals | Mice | Smad4 Protein - deficiency | Retina - pathology | Apoptosis | Care and treatment | Microphthalmos | Gene mutations | Retina | Genetic aspects | Research | Risk factors | Cataracts | Ectoderm | Wnt protein | Laboratories | Smad4 protein | Proteins | Eye (anatomy) | Physiology | Children | Growth factors | Dysplasia | Retinal cells | Developmental biology | Medical treatment | Signaling | Hospitals | Hedgehog protein | Blindness | Mutation | Molecular biology | Binding sites | Cancer | Microphthalmia | Eye lens | Index Medicus
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2014, Volume 86, Issue 4, pp. 326 - 334
Journal Article