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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 Bizikova
Published 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
  • muscular dystrophy
  • early onset