2021 journal article

Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement


MeSH headings : Animals; Australia; Cattle; Dog Diseases / genetics; Dogs; Epidermolysis Bullosa, Junctional / genetics; Epidermolysis Bullosa, Junctional / veterinary; Laminin / genetics; Mutation, Missense; Nail Diseases / genetics; Nail Diseases / veterinary
TL;DR: A novel variant in LAMA3 caused a generalized and severe phenotype of JEB with an unique clinical presentation of upper airway obstruction in a litter of puppies with severe upper respiratory involvement. (via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being (Web of Science; OpenAlex)
Source: Web Of Science
Added: July 19, 2021

BackgroundJunctional epidermolysis bullosa (JEB) is a group of congenital blistering skin diseases characterized by clefting through the lamina lucida of the basement membrane zone.