Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome

Br J Dermatol. 2021 Jun;184(6):1190-1192. doi: 10.1111/bjd.19815. Epub 2021 Mar 3.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Protein Complex 1
  • Adaptor Protein Complex beta Subunits
  • Connexin 26
  • Connexins / genetics
  • Corneal Dystrophies, Hereditary*
  • Deafness*
  • Female
  • Humans
  • Ichthyosis*
  • Infant, Newborn
  • Keratitis* / genetics
  • Mutation / genetics

Substances

  • AP1B1 protein, human
  • Adaptor Protein Complex 1
  • Adaptor Protein Complex beta Subunits
  • Connexins
  • Connexin 26