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Article

Genotype-oropharyngeal phenotype correlation in Mexican patients with dystrophic epidermolysis bullosa.

International journal of oral and maxillofacial surgery - 1 Apr 2014

Fortuna G, Pollio A, Aria M, Moreno-Trevino M G, Marasca F, Salas-Alanís J C

Abstract excerpt

Previous investigations have attempted to correlate the genotype with the cutaneous phenotype in patients with epidermolysis bullosa (EB), but never with the oropharyngeal phenotype. Seventeen dystrophic EB (DEB) patients were genotyped for COL7A1 gene mutations and divided into five distinct groups. Oropharyngeal disease severity was assessed with the Epidermolysis Bullosa Oropharyngeal Severity (EBOS) score by...

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Identifiers

PMID: 24210835
DOI: 10.1016/j.ijom.2013.10.004

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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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