Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis
Abstract 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 recrui...
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Autores principales: | Shang Li, Hua‐ying Hu, Jun‐Jun Xu, Zhan‐ke Feng, Yong‐qing Sun, Xu Chen, Kai Yang, Ya‐zhou Li, Dong‐liang Zhang |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Wiley
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/eb40b0c9466548898d9f64b02237c430 |
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