Prenatal diagnosis of pyloric atresia-ju
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Catherine LΓ©pinard; Philippe Descamps; Guerrino Meneguzzi; Claudine Blanchet-Bar
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Article
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2000
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John Wiley and Sons
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English
β 198 KB
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Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, wh