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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...
Autores principales: | Jin, X, Liu, W, Qv, LH, X, WQ, Huang, HB |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8136215/ https://www.ncbi.nlm.nih.gov/pubmed/34016071 http://dx.doi.org/10.1186/s12886-021-01848-z |
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