Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family

Br J Dermatol. 2017 Nov;177(5):e191-e192. doi: 10.1111/bjd.15535. Epub 2017 Oct 6.
No abstract available

Publication types

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

MeSH terms

  • Consanguinity
  • Exome Sequencing
  • Female
  • Frameshift Mutation / genetics*
  • Humans
  • Ichthyosis, Lamellar / genetics*
  • Male
  • Oxidoreductases / genetics*
  • Pedigree

Substances

  • Oxidoreductases
  • SDR9C7 protein, human