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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… Click to show full abstract
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 phenotype of JEB in a Chinese family.
Keywords:
itgb4 causing;
epidermolysis bullosa;
junctional epidermolysis;
epidermolysis
Journal Title: Pediatric dermatology
Year Published: 2023
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Journal Title: Pediatric dermatology
Year Published: 2023
Link to full text (if available)
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recommendations!