A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 29173316.
- Also identified by DOI 10.1016/j.jpeds.2017.08.029.
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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.
Medical subject headings
- Codon, Nonsense
- Epidermolysis Bullosa, Junctional