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Article

Cutaneous lesions and mitochondrial hearing loss: A case report.

Pediatric dermatology - 1 Jan 2000

Moreno-Artero Ester, Imizcoz Teresa, Prieto Carlos, Manrique Raquel, González-Cañete Marta, Manrique Manuel, Torrelo Antonio

Abstract excerpt

Pathogenic sequence changes in mitochondrial DNA (mtDNA) are one of the most common causes of genetic hearing loss. We report an infant with palmoplantar hyperkeratosis, extrapalmoplantar cutaneous features and mitochondrial sensorineural hearing loss caused by the previously reported pathogenic NC_012920:m.7445A > G sequence change in the mitochondrial gene COX1 (COX1, MT-CO1). Next generation sequencing- based...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 36524552
DOI: 10.1111/pde.15193

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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