Novel and Novel De Novo Mutations in NTRK1 Associated With Congenital Insensitivity to Pain With Anhidrosis: A Case Report

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessively inherited disorder. The main clinical features of the disorder consist of absence of reactions to noxious stimuli and inability to sweat under any conditions. In this case report, a 3-year-old Chinese boy di...

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Bibliographic Details
Published in:Medicine (Baltimore)
Main Authors: Wang, Qingli, Guo, Shanna, Duan, Guangyou, Xiang, Guifang, Ying, Ying, Zhang, Yuhao, Zhang, Xianwei
Format: Artigo
Language:Inglês
Published: Wolters Kluwer Health 2015
Subjects:
3500
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4602583/
https://ncbi.nlm.nih.gov/pubmed/25984678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000000871
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