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Article

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.

Journal of medical genetics - 1 Aug 2016

Zhang Stella, Malik Sharif Saghira, Chen Ya-Chun, Valente Enza-Maria, Ahmed Mushtaq, Sheridan Eamonn, Bennett Christopher, Woods Geoffrey

Abstract excerpt

BACKGROUND: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 has recently been identified as a new gene that can cause CIP. The full phenotype and natural history have not yet been reported. METHODS: We have ascertained five adult patients and report their clinical features....

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Source

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Identifiers

PMID: 26975306
DOI: 10.1136/jmedgenet-2015-103646
PMCID: PMC4975812

Genes

PRDM12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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