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Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins

✍ Scribed by H. Fassihi; G. H. S. Ashton; J. Denyer; J. E. Mellerio; G. Mason; J. A. McGrath

Book ID
108693292
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
84 KB
Volume
30
Category
Article
ISSN
0307-6938

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Epidermolysis bullosa (EB) is a group of heritable diseases which manifest with blistering and erosions of the skin and mucous membranes. Due to life-threatening complications and significant long-term morbidity associated with the severe, neonatal lethal (Herlitz) form of junctional EB (H-JEB), the

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Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk
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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