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
β¦ LIBER β¦
Preimplantation genetic diagnosis in a family at risk for recurrence of Herlitz junctional epidermolysis bullosa
β Scribed by Cserhalmi-Friedman, Peter B.; Tang, Yaxu; Grifo, Jamie A.; Christiano, Angela M.
- Book ID
- 119561860
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 188 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0923-1811
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