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Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk

✍ Scribed by B. De Jenlis Sicot; P. Deruelle; N. Kacet; C. Vaillant; D. Subtil


Book ID
112223397
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
114 KB
Volume
25
Category
Article
ISSN
0960-7692

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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