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Article

Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients.

Clinica chimica acta; international journal of clinical chemistry - 1 May 2017

Lv Fang, Xu Xiao-Jie, Song Yu-Wen, Li Lu-Jiao, Wang Ou, Jiang Yan, Xia Wei-Bo, Xing Xiao-Ping, Gao Peng, Li Mei

Abstract excerpt

BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive autonomic and sensory neuropathy. CIPA is associated with various mutations in NTRK1. CASES: Two unrelated Chinese patients presented separately with symptoms of insensitivity to pain, inability to sweat, repeated painless fractures, and Charcot arthropathy were recruited. Both of them were clinically...

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Source

Identifiers

PMID: 28192073
DOI: 10.1016/j.cca.2017.02.007

Genes

NTRK1

Provenance

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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Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients.PMID 28192073Read ↗

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