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Article

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

Molecular genetics & genomic medicine - 1 Nov 2021

Li Shang, Hu Hua-Ying, Xu Jun-Jun, Feng Zhan-Ke, Sun Yong-Qing, Chen Xu, Yang Kai, Li Ya-Zhou, Zhang Dong-Liang

Abstract excerpt

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 submitted to a series of clinical and genetic examinations. Whole-exome sequencing and whole-genome sequencing were...

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PMID: 34674383
DOI: 10.1002/mgg3.1839
PMCID: PMC8606206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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