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Article

Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.

Fetal and pediatric pathology - 1 Aug 2017

Kayki Gozdem, Bozkaya Davut, Ozaltin Fatih, Orhan Diclehan, Kaymaz Figen, Korkmaz Emine, Yigit Sule

Abstract excerpt

BACKGROUND: Epidermolysis bullosa with pyloric atresia (EB-PA) is an autosomal recessive disorder due to mutations in ITGA6 and/or ITGB4, resulting in altered expression of α6β4 integrin. EB-PA can also occur with aplasia cutis. CASE REPORT: We present a newborn with EB-PA and aplasia cutis, born of consanguineous parents, with a homozygous c.3793+1G>A mutation affecting ITGB4, previously described only in the...

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Source

Identifiers

PMID: 28557647
DOI: 10.1080/15513815.2017.1324545

Genes

ITGB4
ITGA6

Provenance

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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