Epidermolysis bullosa with pyloric atresia.
Epidermolysis bullosa (EB) with pyloric atresia (PA) is a rare form of EB. This article describes the clinical and pathologic features and molecular genetics of EB-PA, the mutations in the alpha(6)beta(4) integrin and plectin genes that cause EB-PA, and the clinical implications of molecular genetics on EB-PA.
Chung
Hye Jin
HJ
Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 South 10th Street, Suite 450 BLSB, Philadelphia, PA 19107, USA.
Uitto
Jouni
J
D004065:Digestive System Abnormalities / Q000235:genetics* / Q000473:pathology*; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D011708:Pylorus / Q000002:abnormalities*