Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review

Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review

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 her...

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Main Authors: Zhenlei Liu, Jiaqi Liu, Gang Liu, Wenjian Cao, Sen Liu, Yixin Chen, Yuzhi Zuo, Weisheng Chen, Jun Chen, Yu Zhang, Shishu Huang, Guixing Qiu, Philip F. Giampietro, Feng Zhang, Zhihong Wu, Nan Wu
Format: Article
Language:English
Published: SAGE Publishing 2018-06-01
Series:Journal of International Medical Research
Online Access:https://doi.org/10.1177/0300060517747164

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