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PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
PAX6 is considered the master regulator of eye development, the majority of variants affecting this gene cause the pan-ocular developmental eye disorder aniridia. Although no genotype-phenotype correlations are clearly established, missense variants affecting the DNA-binding paired domain of PAX6 ar...
में बचाया:
| में प्रकाशित: | Eur J Hum Genet |
|---|---|
| मुख्य लेखकों: | , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Springer International Publishing
2020
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7868363/ https://ncbi.nlm.nih.gov/pubmed/33024313 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00737-1 |
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