Exome sequencing in a Chinese family reveals TTC9 mutation associated with keratitis-ichthyosis-deafness (KID) syndrome

Eur J Dermatol. 2018 Aug 1;28(4):534-535. doi: 10.1684/ejd.2018.3330.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Child
  • China
  • Exome Sequencing
  • Female
  • Humans
  • Keratitis / genetics*
  • Male
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Pedigree

Substances

  • Nerve Tissue Proteins
  • TTC9 protein, human

Supplementary concepts

  • Keratitis-Ichthyosis-Deafness Syndrome