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- W4236288040 abstract "Abstract Background: Aniridia is a kind of congenital human panocular anomaly, which is related to PAX6 commonly. Methods: The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were preformed in a Chinese aniridia pedigree. The targeted next-generation sequencing of Aniridia genes was used to identify the causative mutation. Results: A novel heterozygous PAX6 nonsense mutation c.619A>T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotypes related to the novel mutation include nystagmus, iris defect, cataract and absence of macular fovea. Conclusion: The novel nonsense variation in PAX6 was the cause of aniridia in this family, which expands the spectrum of the PAX6 mutation and its associated phenotype." @default.
- W4236288040 created "2022-05-12" @default.
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- W4236288040 date "2020-07-02" @default.
- W4236288040 modified "2023-09-28" @default.
- W4236288040 title "A novel variant in PAX6 as the cause of aniridia in a Chinese family" @default.
- W4236288040 doi "https://doi.org/10.21203/rs.3.rs-21412/v1" @default.
- W4236288040 hasPublicationYear "2020" @default.
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