基因病因学研究在一个大队列与先天性疼痛不敏感与无水化

Shuang Li1, Xiuzhi Ren2, Yun Guan3

  • 1Department of Medical Genetics, State Key Laboratory for Complex, Severe, and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China.

Pain
|June 4, 2024
PubMed
概括

基因分析确定了48个NTRK1变异,包括22个新变异,这些变异发生在患有无水 (CIPA) 的先天性疼痛不敏感患者中. 这扩展了CIPA最大的已知基因型和表型谱,有助于精确的诊断.

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