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Article

Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene.

The Journal of dermatology - 1 Jul 2018

Hattori Mai, Shimizu Akira, Nakano Hajime, Ishikawa Osamu

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29380424
DOI: 10.1111/1346-8138.14236

Genes

ITGB4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene.PMID 29380424Read ↗

ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement.Semantic proximity Read ↗

A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa.Semantic proximity Read ↗

Identification of novel compound heterozygous ITGB4 mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature.Semantic proximity Read ↗

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

Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report.Semantic proximity Read ↗

Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature reviewSemantic proximity Read ↗

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

Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.Semantic proximity Read ↗

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.Semantic proximity Read ↗

ITGB4-Related pyloric atresia without epidermolysis in two siblings.Semantic proximity Read ↗

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.Semantic proximity Read ↗

Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.Semantic proximity Read ↗

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