Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis

Background: Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive sensory neuropathy, was caused mainly by biallelic mutations in the NTRK1 gene. The pathogenesis of CIPA still needs further elucidation. Methods: Here, we recruited a CIPA case and introduced whole-exome...

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Detalles Bibliográficos
Autores principales: Yang, Kai, Xu, Yi-Cheng, Hu, Hua-Ying, Li, Ya-Zhou, Li, Qian, Luan, Ying-Yi, Liu, Yan, Sun, Yong-Qing, Feng, Zhan-Ke, Yan, You-Sheng, Yin, Cheng-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686761/
https://www.ncbi.nlm.nih.gov/pubmed/34938316
http://dx.doi.org/10.3389/fgene.2021.763467

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686761/
https://www.ncbi.nlm.nih.gov/pubmed/34938316
http://dx.doi.org/10.3389/fgene.2021.763467

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