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The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing

BACKGROUND: Congenital cataract (CC) is a significant cause of lifelong visual loss, and its genetic diagnosis is challenging due to marked genetic heterogeneity. The purpose of this article is to report the genetic findings in sporadic and familial CC patients. METHODS: Patients (n = 53) who were c...

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Detalhes bibliográficos
Publicado no:BMC Ophthalmol
Main Authors: Fan, Fan, Luo, Yi, Wu, Jihong, Gao, Chao, Liu, Xin, Mei, Hengjun, Zhou, Xiyue
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7469093/
https://ncbi.nlm.nih.gov/pubmed/32883240
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-020-01567-x
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