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Epidermolysis bullosa junctionalis with pyloric atresia

*Gene map locus 17q11-qter, 2q31.1
Aplasia cutis congenita with gastrointestinal atresia
Carmi syndrome
EB-PA-ACC
Epidermolysis bullosa, junctional, with pyloric atresia
Epidermylosis bullosa, junctional, with pyloric atresia and aplasia cutis congenita
JEB-PA
Junctional epidermolysis bullosa with pyloric atresia
[Clinical features: lethal in infancy; blistering of the skin and mucous membranes; gastrointestinal abnormalities, including esophageal, pyloric, or duodenal atresia]
[Inheritance: autosomal recessive]

   
Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense
   
American Journal of Human Genetics
   


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Edited by Aldo Campana, August 21, 2012