A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.

Rotemberg, Veronica

A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa. [electronic resource] - The Journal of pediatrics 12 2017 - 266-269.e1 p. digital

Publication Type: Case Reports; Journal Article

1097-6833

10.1016/j.jpeds.2017.08.029 doi


Codon, Nonsense
Epidermolysis Bullosa, Junctional--diagnosis
Fatal Outcome
Genetic Markers
Humans
Infant, Newborn
Male
gamma Catenin--genetics