| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8812834 | The Journal of Pediatrics | 2017 | 5 Pages |
Abstract
We report a case of neonatal generalized erythema and epidermolysis resulting from a novel mutation in the junctional plakoglobin gene causing truncation of the plakoglobin protein. Expedited genetic testing enabled diagnosis while the patient was in the neonatal intensive care unit, providing valuable information for the clinicians and family.
Related Topics
Health Sciences
Medicine and Dentistry
Perinatology, Pediatrics and Child Health
Authors
Veronica MD, PhD, Maria MD, Christine MD, Alejandro MD, Sandhya S. MD, Vimla MBBS, Nicholas PhD, David B. PhD, Thomas MD,