A novel bladder phenotype in junctional epidermolysis bullosa: a case report
BackgroundJunctional epidermolysis bullosa (JEB) is a rare inherited blistering disorder, and its urological spectrum remains poorly defined.Case PresentationA 19-month-old boy carrying compound heterozygous ITGB4 mutations (p.R252C, p.P305l) had a 17-month history of intermittent voiding. Ultrasoun...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1555599/full |
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