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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer Health
2015
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| Materias: | |
| 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 |