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Junctional epidermolysis bullosa lethalis with pyloric and anorectal obstruction

✍ Scribed by D. B. Gahukamble; L. D. Gahukamble


Publisher
Springer-Verlag
Year
2001
Tongue
English
Weight
88 KB
Volume
17
Category
Article
ISSN
0179-0358

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Prenatal diagnosis of pyloric atresia-ju
✍ 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