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Article

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).

The Turkish journal of pediatrics - 1 Jan 2000

Mutlu Mehmet, Kalay Ersan, Dilber Beril, Aslan Yakup, Dilber Embiya, Almaani Nour, McGrath John A

Abstract excerpt

Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with pyloric atresia...

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Source

Identifiers

PMID: 27186702

Genes

ITGB4
ITGA6

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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