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

@article{Pfendner2003PrenatalDF,
  title={Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.},
  author={Ellen G Pfendner and Aoi Nakano and Leena Pulkkinen and Angela M. Christiano and Jouni Uitto},
  journal={Prenatal diagnosis},
  year={2003},
  volume={23 6},
  pages={447-56}
}
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 recurrence of the most severe forms of EB, including the recessive dystrophic EB… CONTINUE READING

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