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Junctional epidermolysis bullosa with pyloric atresia
rareJunctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.
- Identifiers
- MONDO:0009183 OMIM:226730Orphanet:79403
- Causal genes
- ITGB4
- Part of
- Junctional epidermolysis bullosa
- Also known as
- Carmi syndrome · epidermolysis bullosa junctionalis with pyloric atresia · epidermolysis bullosa with pyloric atresia · epidermolysis bullosa, junctional, with pyloric stenosis · JEB-PA
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