Article
Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.
Prenatal diagnosis - 1 Apr 1997
Christiano A M, Pulkkinen L, McGrath J A, Uitto J
Abstract excerpt
Epidermolysis bullosa (EB) is a group of heritable diseases which manifest with blistering and erosions of the skin and mucous membranes. Due of life-threatening complications and significant long-term morbidity associated with the severe, neonatal lethal (Herlitz) form of junctional EB (H-JEB), there has been a demand for prenatal diagnosis from families at risk for recurrence. Previously, the only reliable...
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