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Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract

Congenital cataract is the commonest cause of visual impairment and blindness in children worldwide. Among congenital cataract cases, ~25% are caused by genetic defects, while several genetic mutations have been identified in hereditary cataract. In the present study, a patient with cataract underwe...

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Detalles Bibliográficos
Autores principales: Qi, Chenyang, He, Yunxuan, Jiang, Chun, Zhang, Xiaoxue, Zhu, Peiran, Li, Weiwei, Zhou, Hongjian, Xue, Chunyan, Xia, Xinyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10263388/
https://www.ncbi.nlm.nih.gov/pubmed/37165913
http://dx.doi.org/10.3892/mmr.2023.13008