Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.
Feng-Juan GaoGuo-Hong TianFang-Yuan HuDan-Dan WangJian-Kang LiQing ChangFang ChenGe-Zhi XuWei LiuFeng-Juan GaoPublished in: BMC ophthalmology (2020)
We provide a detailed description of the genotypes and phenotypes of seven patients with choroideremia who were accurately diagnosed using NGS. These findings provide a better understanding of the genetics and phenotypes of choroideremia.