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Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia
PURPOSE: Aniridia is a rare panocular disorder characterized by iris hypoplasia and other associated eye anomalies. Heterozygous null mutations in paired box gene 6 (PAX6) are the major cause of the classic aniridia phenotype. This study aims to detect the mutational spectrum of PAX6 and associated...
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| Pubblicato in: | Mol Vis |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Molecular Vision
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4316699/ https://ncbi.nlm.nih.gov/pubmed/25678763 |
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