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Pax6 3′ deletion results in aniridia, autism and mental retardation
The PAX6 gene is a transcription factor expressed early in development, predominantly in the eye, brain and gut. It is well known that mutations in PAX6 may result in aniridia, Peter's anomaly and kertatisis. Here, we present mutation analysis of a patient with aniridia, autism and mental retar...
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| Главные авторы: | , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2008
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2719768/ https://ncbi.nlm.nih.gov/pubmed/18322702 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-008-0484-x |
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