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Article

A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa.

Pediatric dermatology - 1 Jan 2000

Li Zhongtao, Wang Lin, Wang Sheng

Abstract excerpt

Mutations in ITGB4 are known to cause autosomal recessive junctional epidermolysis bullosa (JEB), which is manifested by severe blistering and granulation tissue, usually complicating pyloric atresia and even leading to death. ITGB4-associated autosomal dominant epidermolysis bullosa has rarely been documented. Herein, we identified a heterozygous pathogenic variant (c.433G>T; p.Asp145Tyr) in ITGB4 causing a mild...

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PMID: 36813478
DOI: 10.1111/pde.15282

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