Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy

PURPOSE: The purpose of this study was to elucidate the genetic basis of 2 distinct phenotypes associated with biallelic variants in RDH12. METHODS: Patients with biallelic variants in RDH12 were recruited from our genetic eye clinic. Ocular phenotypes were evaluated. Genotype-phenotype correlations...

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Detalles Bibliográficos
Autores principales: Wang, Junwen, Wang, Yingwei, Li, Shiqiang, Xiao, Xueshan, Yi, Zhen, Jiang, Yi, Li, Xueqing, Jia, Xiaoyun, Wang, Panfeng, Jin, Chenjin, Sun, Wenmin, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9419460/
https://www.ncbi.nlm.nih.gov/pubmed/35994252
http://dx.doi.org/10.1167/iovs.63.9.24

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9419460/
https://www.ncbi.nlm.nih.gov/pubmed/35994252
http://dx.doi.org/10.1167/iovs.63.9.24

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