-2,

You Wang1, Aohan Hou2, Wenjia Yan2

  • 1Department of Ophthalmology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

概括

双性DOCK6突变会导致家族排泄性玻璃红蛋白病变 (FEVR). 这种功能丧失机制导致严重的眼睛和全身问题,强调了FEVR患者的DOCK6查.