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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...
Tallennettuna:
| Julkaisussa: | BMC Ophthalmol |
|---|---|
| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2021
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| Aiheet: | |
| Linkit: | 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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