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A case of pyloric atresia associated with junctional epidermolysis bullosa

✍ Scribed by T. Ishigami; K. Akaishi; S. Nishimura; T. Yokoo

Publisher
Springer
Year
1990
Tongue
English
Weight
378 KB
Volume
149
Category
Article
ISSN
0340-6997

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Prenatal diagnosis of pyloric atresia-ju
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk
✍ Catherine LΓ©pinard; Philippe Descamps; Guerrino Meneguzzi; Claudine Blanchet-Bar πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 198 KB πŸ‘ 1 views

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