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A novel variant in PAX6 as the cause of aniridia in a Chinese family
BACKGROUND: Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. METHODS: The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree. The targeted next-generation sequencing of aniri...
Uloženo v:
| Vydáno v: | BMC Ophthalmol |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8136215/ https://ncbi.nlm.nih.gov/pubmed/34016071 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-021-01848-z |
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