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Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis

BACKGROUND: Congenital insensitivity to pain (CIP) conditions are a group of Mendelian disorders with clinical and genetic heterogeneity. CIP with anhidrosis (CIPA) is a distinct subtype caused by biallelic variants in the NTRK1 gene. METHODS: In this study, six families with CIPA were recruited and...

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Detalles Bibliográficos
Autores principales:	Li, Shang, Hu, Hua‐ying, Xu, Jun‐Jun, Feng, Zhan‐ke, Sun, Yong‐qing, Chen, Xu, Yang, Kai, Li, Ya‐zhou, Zhang, Dong‐liang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606206/ https://www.ncbi.nlm.nih.gov/pubmed/34674383 http://dx.doi.org/10.1002/mgg3.1839

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