Identification of a Non-Stop Mutation in PAX6 Causing a Unique Presentation of Aniridia in an Iranian Family Trial
Non-syndromic aniridia (iris hypoplasia) as an autosomal dominant eye disorder results from the chromosomal abnormalities and mutations within the paired box gene 6 (PAX6). The aim of this study was to investigate on the clinical and the underlying genetic alteration in PAX6 gene in a large pedigre...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Tehran University of Medical Sciences
2018-02-01
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| Series: | Acta Medica Iranica |
| Subjects: | |
| Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/6500 |