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Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review.

Andrea DiociaiutiE PisaneschiS RossiA G CondorelliC CarnevaleG ZambrunoM El Hachem
Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2020)
Keyphrases
  • case report
  • intellectual disability
  • muscular dystrophy
  • autism spectrum disorder