A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis

Clin Dysmorphol. 2015 Jul;24(3):115-7. doi: 10.1097/MCD.0000000000000071.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Humans
  • Ichthyosis, Lamellar / blood
  • Ichthyosis, Lamellar / genetics*
  • Infant, Newborn
  • Male
  • Mutation*
  • Turkey

Substances

  • ABCA12 protein, human
  • ATP-Binding Cassette Transporters