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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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Ophthalmol
Egile Nagusiak: Fan, Fan, Luo, Yi, Wu, Jihong, Gao, Chao, Liu, Xin, Mei, Hengjun, Zhou, Xiyue
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2020
Gaiak:
Sarrera elektronikoa: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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