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Article

"Nails Only" Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex.

Pediatric dermatology - 1 Jul 2017

González-Cantero Álvaro, Sánchez-Moya Ana Isabel, Pérez-Hortet Cristina, Martínez-Lorenzo Elena, Gómez-Dorado Blas, Schoendorff-Ortega Cristina

Abstract excerpt

Epidermolysis bullosa (EB) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. We present the first report of a nails-only phenotype in two patients with epidermolysis bullosa simplex (EBS) and a heterozygous pGlu170Lys mutation and the second reported case of EBS associated with a...

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PMID: 28425111
DOI: 10.1111/pde.13146

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KRT5

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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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