Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype–phenotype analysis

AIMS: To identify the mutation spectrum and genotype–phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL). METHODS: Patients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by...

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Detalles Bibliográficos
Autores principales: Chen, Zexu, Chen, Tianhui, Zhang, Min, Chen, Jiahui, Deng, Michael, Zheng, Jialei, Lan, Li-Na, Jiang, Yongxiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Clinical Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9685704/
https://www.ncbi.nlm.nih.gov/pubmed/34281902
http://dx.doi.org/10.1136/bjophthalmol-2021-319084

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9685704/
https://www.ncbi.nlm.nih.gov/pubmed/34281902
http://dx.doi.org/10.1136/bjophthalmol-2021-319084

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