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Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities
BACKGROUND: Aniridia is a congenital, panocular disease that can affect the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function variants are the most common cause of aniridia, and variants throughout the gene have been linked to a range of ophthalmic abnormaliti...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761350/ https://www.ncbi.nlm.nih.gov/pubmed/35034608 http://dx.doi.org/10.1186/s12886-022-02256-7 |