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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...

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Detalles Bibliográficos
Autores principales:	Ouyang, Junyi, Cai, Ziyan, Guo, Yinjie, Nie, Fen, Cao, Mengdan, Duan, Xuanchu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
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

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