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Article

Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis.

Pediatric neurology - 1 Aug 2016

Wang Qing-Li, Guo Shanna, Duan Guangyou, Ying Ying, Huang Penghao, Liu Jing Yu, Zhang Xianwei

Abstract excerpt

BACKGROUND: Congenital insensitivity to pain with anhidrosis is an extremely rare hereditary disorder linked to variants in NTRK1. Our goal was to characterize the clinical features and the genetic basis of the disorder in Chinese patients. METHODS: Patients were enrolled via social networking. Clinical features were investigated by interview, chart review, and physical examination. DNA was extracted from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27265460
DOI: 10.1016/j.pediatrneurol.2016.04.006

Genes

NTRK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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