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Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively; however, the majority of cas...
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| 出版年: | Eur J Hum Genet |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4929874/ https://ncbi.nlm.nih.gov/pubmed/26130484 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.155 |
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