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Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2/2012, Volume 123, Issue 2, pp. 235 - 245
Journal Article
Journal Article
Molecular Vision, ISSN 1090-0535, 01/2015, Volume 21, pp. 88 - 97
Purpose: Aniridia is a rare panocular disorder characterized by iris hypoplasia and other associated eye anomalies. Heterozygous null mutations in paired box... 
DEFECTS | NONSENSE | DNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | OPHTHALMOLOGY | MESSENGER-RNA DECAY | PAX6 GENE | DELETIONS | MISSENSE MUTATIONS | PREDICTION | REGION | Iris - metabolism | Humans | Middle Aged | Cataract - pathology | Child, Preschool | Fovea Centralis - pathology | Male | Nystagmus, Congenital - genetics | Aniridia - genetics | Aniridia - pathology | DNA Mutational Analysis | Nystagmus, Pathologic - complications | Base Sequence | Child | Amino Acid Sequence | Eye Diseases, Hereditary - pathology | Eye Diseases, Hereditary - complications | Repressor Proteins - genetics | Aniridia - complications | Genetic Heterogeneity | India | Cataract - complications | Adolescent | Cataract - genetics | Mutation | Glaucoma - genetics | Paired Box Transcription Factors - genetics | Retinal Diseases - genetics | Nystagmus, Congenital - complications | Nystagmus, Pathologic - genetics | Open Reading Frames | Molecular Sequence Data | Infant | Retinal Diseases - congenital | Case-Control Studies | Retinal Diseases - pathology | Adult | Female | Eye Proteins - genetics | Nystagmus, Pathologic - pathology | Fovea Centralis - abnormalities | Genetic Association Studies | Introns | Retinal Diseases - complications | PAX6 Transcription Factor | Glaucoma - complications | Iris - pathology | Homeodomain Proteins - genetics | Eye Diseases, Hereditary - genetics | Haploinsufficiency | Nystagmus, Congenital - pathology | Aged | Glaucoma - pathology | Index Medicus
Journal Article
Molecular vision, ISSN 1090-0535, 2019, Volume 25, Issue 1, pp. 129 - 142
Journal Article
Journal Article
17.