Article
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
The Journal of international medical research - 1 Jun 2018
Liu Zhenlei, Liu Jiaqi, Liu Gang, Cao Wenjian, Liu Sen, Chen Yixin, Zuo Yuzhi, Chen Weisheng, Chen Jun, Zhang Yu, Huang Shishu, Qiu Guixing, Giampietro Philip F, Zhang Feng, Wu Zhihong, Wu Nan
Abstract excerpt
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive heterogeneous disorder mainly caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene ( NTRK1) and characterized by insensitivity to noxious stimuli, anhidrosis, and intellectual disability. We herein report the first north Han Chinese patient with CIPA who exhibited classic phenotypic features and severe...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.