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Article

An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.

Pediatrics - 1 Sept 2003

Bonkowsky Joshua L, Johnson Justine, Carey John C, Smith A Gordon, Swoboda Kathryn J

Abstract excerpt

Patients with congenital insensitivity to pain and anhidrosis (CIPA), caused by mutations in the NTRK1 gene, can be difficult to diagnose because of their variable presentation, the lack of simple diagnostic tests, and the paucity of cases reported in North America. We describe a 1-year-old infan...

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Topics

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Share to NTRK1 gene
Share to Hereditary Neurological Disorders
Share to Hereditary Sensory and Autonomic Neuropathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Keratoderma, Palmoplantar

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Share to Receptor, trkA

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Source

Identifiers

PMID: 12949319
DOI: 10.1542/peds.112.3.e237

Genes

NTRK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12949319-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.PMID 12949319Read ↗

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