Ontology highlight
ABSTRACT:
SUBMITTER: Zhou TC
PROVIDER: S-EPMC7531002 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Zhou Tai-Cheng TC Duan Wen-Hua WH Fu Xiao-Lin XL Zhu Qin Q Guo Li-Yun LY Zhou Yuan Y Hua Zhi-Juan ZJ Li Xue-Jiao XJ Yang Dong-Mei DM Zhang Jie-Ying JY Yin Jie J Zhang Xiao-Fan XF Zhou Guang-Long GL Hu Min M
Scientific reports 20201001 1
Duane retraction syndrome (DRS) is a neuromuscular dysfunction of the eyes. Although many causative genes of DRS have been identified in Europe and the United States, few reports have been published in regard to Chinese DRS. The aim of the present study was to explore the genetic defect of DRS in a Chinese family. Exome sequencing was used to identify the disease-causing gene for the two affected family members. Ophthalmic and physical examinations, as well as genetic screenings for variants in ...[more]