Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement.
Ina HerrmannKeith E LinderKathryn M MeursSteven G FriedenbergJonah CullenNatasha Jane OlbyPetra BizikovaPublished in: Veterinary dermatology (2021)
A novel variant in LAMA3 caused a generalized and severe phenotype of JEB with an unique clinical presentation of upper airway obstruction.
Keyphrases