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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Detalles Bibliográficos
Autores principales: Wang, Qingli, Guo, Shanna, Duan, Guangyou, Xiang, Guifang, Ying, Ying, Zhang, Yuhao, Zhang, Xianwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2015
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602583/
https://www.ncbi.nlm.nih.gov/pubmed/25984678
http://dx.doi.org/10.1097/MD.0000000000000871

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602583/
https://www.ncbi.nlm.nih.gov/pubmed/25984678
http://dx.doi.org/10.1097/MD.0000000000000871

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