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Volumn 31, Issue 2, 2011, Pages 117-120
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Isolated foveal hypoplasia: Report of a new case and detailed genetic investigation
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Author keywords
Chromosomal abnormalities; Foveal hypoplasia; GPR143; OCA2; PAX6
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Indexed keywords
EYE PROTEIN;
G PROTEIN COUPLED RECEPTOR;
G PROTEIN COUPLED RECEPTOR 143;
GENOMIC DNA;
OCULOCUTANEOUS ALBINISM II PROTEIN;
TRANSCRIPTION FACTOR PAX6;
UNCLASSIFIED DRUG;
ARTICLE;
CASE REPORT;
CHILD;
CHROMOSOME ABERRATION;
DNA EXTRACTION;
EYE EXAMINATION;
FOVEAL HYPOPLASIA;
GENETIC ANALYSIS;
GENETIC ASSOCIATION;
GENETIC SCREENING;
HUMAN;
HYPOPLASIA;
MALE;
MUTATIONAL ANALYSIS;
NYSTAGMUS;
OPTICAL COHERENCE TOMOGRAPHY;
PEDIGREE ANALYSIS;
SCHOOL CHILD;
VISUAL ACUITY;
CHILD;
CHROMOSOME ABERRATIONS;
EYE PROTEINS;
FOVEA CENTRALIS;
FUNDUS OCULI;
HOMEODOMAIN PROTEINS;
HUMANS;
MALE;
MEMBRANE GLYCOPROTEINS;
MEMBRANE TRANSPORT PROTEINS;
MUTATION;
PAIRED BOX TRANSCRIPTION FACTORS;
PEDIGREE;
REPRESSOR PROTEINS;
RETINAL DISEASES;
TOMOGRAPHY, OPTICAL COHERENCE;
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EID: 79956008643
PISSN: 01655701
EISSN: 15732630
Source Type: Journal
DOI: 10.1007/s10792-011-9424-1 Document Type: Article |
Times cited : (12)
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References (8)
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