Article
[DNA-based prenatal diagnosis in epidermolysis bullosa].
Orvosi hetilap - 11 Jan 1998
Cserhalmi-Friedman B P, Kárpáti S, Horváth A, Tóth T, Tóth-Pál E, Christiano M A
Abstract excerpt
Authors report a prenatal diagnosis in a family of Herlitz junctional epidermolysis bullosa with risk of recurrence. The diagnosis in the family was established in the case of the affected older brother using electron microscopy and immunofluorescence microscopy. The underlying mutation was also detected in the gene LAMB3. The affected older brother was homozygous, the parents and one of the siblings proved to be...
Topics
- Biopsy
- Chorionic Villi
- DNA
- Epidermolysis Bullosa
- Female
- Genotype
- Humans
- Infant, Newborn
- Male
- Microscopy, Electron
- Microscopy, Fluorescence
- Pedigree
- Polymerase Chain Reaction
- Pregnancy
- Pregnancy Complications
- Pregnancy Outcome
- Pregnancy Trimester, Third
- Prenatal Diagnosis