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Article

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).

The Journal of molecular diagnostics : JMD - 1 Feb 2005

Nakamura Hiroyuki, Sawamura Daisuke, Goto Maki, Nakamura Hideki, McMillan James R, Park Susam, Kono Sumio, Hasegawa Shiro, Paku Son'e, Nakamura Tomohiko, Ogiso Yoshihumi, Shimizu Hiroshi

Abstract excerpt

Epidermolysis bullosa (EB) is an inherited mechano-bullous disorder of the skin, and is divided into three major categories: EB simplex (EBS), dystrophic EB, and junctional EB (JEB). Mutations in the plectin gene (PLEC1) cause EBS associated with muscular dystrophy, whereas JEB associated with pyloric atresia (PA) results from mutations in the alpha6 and beta4 integrin genes. In this study, we examined three EB...

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Identifiers

PMID: 15681471
DOI: 10.1016/S1525-1578(10)60005-0
PMCID: PMC1867514

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).PMID 15681471Read ↗

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Epidermolysis bullosa simplex with muscular dystrophy.Semantic proximity Read ↗

Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.Semantic proximity Read ↗

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