Abstract
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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Review
MeSH terms
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Digestive System Abnormalities / genetics*
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Digestive System Abnormalities / pathology*
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Epidermolysis Bullosa / genetics*
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Epidermolysis Bullosa / pathology*
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Humans
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Pylorus / abnormalities*