Article
Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.
Pain - 1 Sept 2024
Li Shuang, Ren Xiuzhi, Guan Yun, Zhao Feiyue, Cao Yixuan, Geng Xingzhu, Wang Yanzhou, Wu Nan, Wu Lingqian, Zhao Xiuli
Abstract excerpt
ABSTRACT: Pathogenic variations in the NTRK1 can cause congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive inherited neuropathy. The precise diagnosis of CIPA relies on the identification of pathogenic genotypes. Therefore, it is essential to expand the NTRK1 variation spectrum and improve molecular diagnosis methods. In this study, 74 probands with typical manifestations of CIPA...
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