PRPS1:

Tariq A Alzahem1,2, Abdulwahab AlTheeb1, Rola Ba-Abbad1

  • 1Ocular Genetics Service, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Ophthalmic genetics
|April 15, 2024
PubMed
概括

在患有视力和听力损失的患者中,阿舍尔综合征的诊断被修改为PRPS1相关的视网膜病变和Charcot-Marie-Tooth疾病5型. 基因检测和临床发现对于准确诊断至关重要.