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Article

ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement.

Acta dermato-venereologica - 1 Jan 2015

Lee Mingyang, Chen Quan, Wang Huijun, Zhang Jie, Lin Zhimiao, Yang Yong

Abstract excerpt

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Share to DNA Mutational Analysis
Share to Epidermolysis Bullosa, Junctional
Share to Genetic Predisposition to Disease
Share to Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Integrin beta4

Share to Male Urogenital Diseases

Share to Microscopy, Electron, Transmission

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Source

Identifiers

PMID: 24807042
DOI: 10.2340/00015555-1888

Genes

ITGB4

Provenance

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

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ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement.PMID 24807042Read ↗

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

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

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

Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management.Semantic proximity Read ↗

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

Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation.Semantic proximity Read ↗

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

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

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

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.Semantic proximity Read ↗

Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement.Semantic proximity Read ↗

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