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European Journal of Human Genetics, ISSN 1018-4813, 03/2014, Volume 22, Issue 3, pp. 344 - 349
Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM... 
congenital nystagmus | foveal hypoplasia | PAX6 | autosomal dominant | DNA-BINDING | DOMAIN | DEFECTS | OPTICAL COHERENCE TOMOGRAPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | MISSENSE MUTATIONS | REGION | ACHROMATOPSIA | GENE | GENETICS & HEREDITY | IDIOPATHIC CONGENITAL NYSTAGMUS | Paired Box Transcription Factors - genetics | Nystagmus, Congenital - diagnosis | Humans | Middle Aged | Eye Diseases, Hereditary - diagnosis | Male | Nystagmus, Congenital - genetics | Mutation, Missense | Lod Score | Genes, Dominant | Adult | Female | Eye Proteins - genetics | Child | Fovea Centralis - abnormalities | Cataract - diagnosis | Repressor Proteins - genetics | Chromosomes, Human, Pair 11 - genetics | PAX6 Transcription Factor | Homeodomain Proteins - genetics | Eye Diseases, Hereditary - genetics | Pedigree | Adolescent | Age of Onset | Cataract - genetics | Aged | Polymorphism, Single Nucleotide | Cataracts | Neurosciences | Neurobiology | Proline | Amino acids | Retina | Genomes | Single-nucleotide polymorphism | Horizontal cells | Eye movements | Amino acid substitution | Eye | Genotype & phenotype | Iris | Missense mutation | Arginine | Aniridia | Tomography | Chromosome 11 | Genetics | Deoxyribonucleic acid--DNA | Linkage analysis | Hypoplasia | Phenotypes | Congenital diseases | Medical imaging | Optic nerve | Medicine | Pax6 protein | Neurology | Hospitals | Nystagmus | Mutation | Splice junctions
Journal Article
Fetal and Pediatric Pathology, ISSN 1551-3815, 11/2015, Volume 34, Issue 6, pp. 375 - 382
Focal dermal hypoplasia (FDH) is a rare multisystem disorder characterized by abnormalities in tissues derived from the meso-ectoderm, mainly affecting the... 
fat herniation | dermal hypoplasia | PORCN | ectrodactyly | Goltz syndrome | coloboma iris | REGULATOR | PEDIATRICS | UPDATE | PATHOLOGY | Acyltransferases | Point Mutation | Prognosis | Membrane Proteins - genetics | Humans | Female | Focal Dermal Hypoplasia - genetics | Early Diagnosis | Focal Dermal Hypoplasia - pathology | Infant, Newborn
Journal Article
Indian Journal of Ophthalmology, ISSN 0301-4738, 11/2011, Volume 59, Issue 6, pp. 503 - 505
A case of foveal hypoplasia associated with ocular albinism with anatomic and functional changes by various techniques using spectral domain optical coherence... 
Foveal hypoplasia | spectral domain optical coherence tomography | microperimetry | ALBINISM | OPHTHALMOLOGY | Fovea Centralis - abnormalities | Eye Abnormalities - pathology | Tomography, Optical Coherence | Humans | Adult | Male | Visual Field Tests | Case studies | Usage | Development and progression | Diagnosis | Perimetry | Retinal diseases | Optical tomography | Macular degeneration | Eyes & eyesight | Brief Communications | screening | Blebitis | iris claw lens | glaucoma | Dislocated nucleus | prognostic factors | relative afferent pupillary defect | visual impairments | pars plana vitrectomy | Optic disc cupping | cycloplegia | prism | preoperative visual acuity | esotropia | orbital cellulitis | risk factors | retinal nerve fiber layer thickness | Accommodative esotropia | lens thickness | neuroimaging | Early glaucoma | prethreshold retinopathy of prematurity | strabismus | Anthrax | presbyopia | survey | Schoolgirls | Retinoblastoma | phacomorphic glaucoma | Blowout | Myopia | bleb leak | axial length | spectral optical coherence tomography / scanning laser ophthalmoscope | retinopathy of prematurity | Intrastromal corneal ring segments; keraring; post-LASIK ectasia | community-acquired methicillin-resistant Staphyloccus aureus | diplopia | Anterior chamber depth | monovision | preseptal cellulitis | ocular surface diseases | atropine | optic disc pallor | suprasellar tumor | open globe injury | Cataract | microbiology | risk factor | Ocular trauma | intraocular lens | Refractive errors | pseudophakic
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 1998, Volume 125, Issue 1, pp. 98 - 100
Journal Article
American Journal of Neuroradiology, ISSN 0195-6108, 06/2006, Volume 27, Issue 6, pp. 1318 - 1320
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 981 - 992
Journal Article