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

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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Bibliographic Details
Main Authors: Shang Li, Hua‐ying Hu, Jun‐Jun Xu, Zhan‐ke Feng, Yong‐qing Sun, Xu Chen, Kai Yang, Ya‐zhou Li, Dong‐liang Zhang
Format: Article
Language:English
Published: Wiley 2021-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
congenital insensitivity to pain with anhidrosis
NTRK1 gene
whole‐exome sequencing
whole‐genome sequencing
Online Access:https://doi.org/10.1002/mgg3.1839

Internet

https://doi.org/10.1002/mgg3.1839

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