Phenotype-Based Genetic Analysis Reveals Missing Heritability of KIF11-Related Retinopathy: Clinical and Genetic Findings

The purpose of this study was to detect the missing heritability of patients with KIF11-related retinopathy and to describe their clinical and genetic characteristics. We enrolled 10 individuals from 7 unrelated families harboring a pathogenic monoallelic variant in KIF11. All subjects underwent oph...

Descripción completa

Detalles Bibliográficos
Autores principales: Chang, Haoyu, Zhang, Xin, Xu, Ke, Li, Nien, Xie, Yue, Yan, Weiyu, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858922/
https://www.ncbi.nlm.nih.gov/pubmed/36672954
http://dx.doi.org/10.3390/genes14010212

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858922/
https://www.ncbi.nlm.nih.gov/pubmed/36672954
http://dx.doi.org/10.3390/genes14010212

Ejemplares similares