Publication details
Prenatal Diagnostics in Dowling-Meara Type of Epidermolysis Bullosa Simplex Family
| Authors | |
|---|---|
| Year of publication | 2007 |
| Type | Article in Proceedings |
| Conference | 1st World Congress on Genodermatology |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | Epidermolysis bullosa simplex; Prenatal Diagnostics; Dowling-Meara Type |
| Description | The authors report a family with occurrance of Epidermolysis bullosa simplex Dowling-Meara. The diagnosis of EBS-DM was made from the skin biopsy. The causative mutation was identified by molecular-genetic analysis. Prenatal diagnostics was performed at the 16th week of the second pregnancy and no fetal mutation was detected. |