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Oral and Craniofacial Manifestations and Two Novel Missense Mutations of the NTRK1 Gene Identified in the Patient with Congenital Insensitivity to Pain with Anhidrosis
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder of the peripheral nervous system resulting from mutations in neurotrophic tyrosine kinase receptor 1 gene (NTRK1), which encodes the high-affinity nerve growth factor receptor TRKA. Here, we investigated the oral an...
Autores principales: | Gao, Li, Guo, Hao, Ye, Nan, Bai, Yudi, Liu, Xin, Yu, Ping, Xue, Yang, Ma, Shufang, Wei, Kewen, Jin, Yan, Wen, Lingying, Xuan, Kun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3682965/ https://www.ncbi.nlm.nih.gov/pubmed/23799134 http://dx.doi.org/10.1371/journal.pone.0066863 |
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