Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome

Clin Dysmorphol. 2018 Jan;27(1):1-3. doi: 10.1097/MCD.0000000000000204.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Child, Preschool
  • Epilepsies, Myoclonic / genetics*
  • Female
  • GTPase-Activating Proteins
  • Humans
  • Male
  • Membrane Proteins
  • Mutation
  • Nerve Tissue Proteins
  • Pedigree
  • Turkey

Substances

  • Carrier Proteins
  • GTPase-Activating Proteins
  • Membrane Proteins
  • Nerve Tissue Proteins
  • TBC1D24 protein, human