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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Detalles Bibliográficos
Autores principales: Fan, Fan, Luo, Yi, Wu, Jihong, Gao, Chao, Liu, Xin, Mei, Hengjun, Zhou, Xiyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469093/
https://www.ncbi.nlm.nih.gov/pubmed/32883240
http://dx.doi.org/10.1186/s12886-020-01567-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469093/
https://www.ncbi.nlm.nih.gov/pubmed/32883240
http://dx.doi.org/10.1186/s12886-020-01567-x

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