Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis

Abstract

Objective To explore the aetiology of congenital insensitivity to pain with anhidrosis (CIPA) in two Chinese siblings with typical CIPA symptoms including insensitivity to pain, inability to sweat, and self-mutilating behaviours. Methods Clinical examination and genetic testing were conducted of all available family members, and the findings were used to… (More)
DOI: 10.1177/0300060517691699

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Cite this paper

@inproceedings{Wang2017IdentificationOA, title={Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis}, author={Ting Wang and Haibo Li and Jingjing Xiang and Bin Wei and Qin Zhang and Qin Zhu and Minjuan Liu and Miao Sun and Hong Bo Li}, booktitle={The Journal of international medical research}, year={2017} }