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Article

Prenatal diagnosis for Epidermolysis bullosa: a study of 144 consecutive pregnancies at risk

28 Apr 2003

Abstract excerpt

Epidermolysis bullosa (EB) is a group of inherited disorders characterized by increased skin fragility, resulting in blisters and erosions after minor trauma. Mutations in 10 structural genes expressed in the cutaneous basement membrane zone have been reported. The DebRA Molecular Diagnostics Laboratory at Jefferson Medical College has performed 144 DNA-based prenatal diagnoses since 1993 in families at risk for...

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PMID: 12813757
DOI: 10.1002/pd.619

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