Phenotypic features of epidermolysis bullosa simplex due to klhl24 mutations in 3 italian cases

M. El Hachem, S. Barresi, A. Diociaiuti, R. Boldrini, A.G. Condorelli, E. Capoluongo, V. Proto, G. Scuvera, C. Has, M. Tartaglia, D. Castiglia

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)238-239
Number of pages2
JournalActa Dermato-Venereologica
Volume99
Issue number2
DOIs
Publication statusPublished - 2019

Keywords

  • cytokeratin 14
  • cytokeratin 5
  • klhl24 protein
  • protein
  • unclassified drug
  • Article
  • case report
  • child
  • clinical article
  • clinical feature
  • codon
  • electron microscopy
  • epidermolysis bullosa simplex
  • female
  • gene mutation
  • human
  • immunofluorescence test
  • male
  • missense mutation
  • mouth lesion
  • nail dystrophy
  • newborn
  • onycholysis
  • phenotype
  • priority journal
  • protein expression
  • Sanger sequencing
  • school child
  • skin atrophy
  • skin biopsy
  • skin disease
  • skin fragility
  • whole exome sequencing

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