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Acta Ophthalmologica, ISSN 1755-375X, 12/2019, Volume 97, Issue S263, p. n/a
Using exome sequencing we have discovered de novo missense variants in WDR37 in unrelated patients with a complex phenotype, which we named WDR37 syndrome.... 
CRISPR | Phenotypes | Cornea | Immunocytochemistry | Zebrafish | Genomes | Lethality | Biosynthesis | Gene expression | Embryos | Cholesterol | Mutants | Defects | Domains | Proteins | Vertebrates | Missense mutation | Neurological complications | Cell lines | Opacity | Mutation | Localization | Cytoplasm | Seizures
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 6, p. e21122
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2012, Volume 7, Issue 1, p. e30896
Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects,... 
RETINAL VASCULATURE | AXENFELD-RIEGER-SYNDROME | BIOLOGY | LEFT-RIGHT ASYMMETRY | FETAL VASCULATURE PFV | NEURAL CREST SURVIVAL | TOOTH MORPHOGENESIS | EXPRESSION | HOMEOBOX GENE PITX2 | HYALOID VASCULATURE | CELL-DEATH | Homeodomain Proteins - metabolism | Humans | Transcription Factors - deficiency | Craniofacial Abnormalities - embryology | Embryo, Nonmammalian - metabolism | Eye Abnormalities - embryology | Molecular Sequence Data | RNA, Messenger - metabolism | Zebrafish - embryology | Embryo, Nonmammalian - drug effects | Gene Knockdown Techniques | In Situ Hybridization | Base Sequence | RNA Splicing - genetics | Craniofacial Abnormalities - pathology | Craniofacial Abnormalities - metabolism | Biomarkers - metabolism | RNA Splicing - drug effects | Zebrafish Proteins - metabolism | RNA, Messenger - genetics | Gene Expression Regulation, Developmental - drug effects | Exons - genetics | Zebrafish - genetics | Transcription Factors - metabolism | Phenotype | Zebrafish Proteins - deficiency | Animals | Eye Abnormalities - pathology | Morpholinos - pharmacology | Protein Biosynthesis - drug effects | Embryonic Development - drug effects | Proteins | Embryonic development | Genetic aspects | Genes | Analysis | Heart | Pediatrics | Jaw | Neurosciences | Animal models | Arches | Lethality | Defects | Eye | Homeobox | Morphogenesis | Cartilage | Eye (anatomy) | Pitx2 gene | Deoxyribonucleic acid--DNA | Hypoplasia | Edema | Mandible | Splicing | Abnormalities | Craniofacial syndromes | Zebrafish | Embryos | Pharynx | Hereditary diseases | Children & youth | Vertebrates | Craniofacial growth | Plasmids | Mutation | Laboratory animals | Apoptosis | Deoxyribonucleic acid | DNA
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2017, Volume 12, Issue 9, p. e0184903
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