11

Chinmaya Singh1, Nc Kiran2, Geeta Kampani1,3

  • 1General Medicine, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

BMJ case reports
|May 2, 2025
PubMed
概括

神经状脂症 (NCL) 是一组遗传性疾病. 这项案例研究确定了新突变的progranulin基因 (GRN),导致CLN类型-11,其特点是视力丧失和发作.