Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis

Acta Derm Venereol. 2017 Jan 4;97(1):102-104. doi: 10.2340/00015555-2510.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Algeria
  • Caspases / genetics*
  • Consanguinity
  • Exome*
  • Female
  • Frameshift Mutation / genetics*
  • Genes, Recessive
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • Ichthyosis / genetics*
  • Male
  • Phenotype
  • Sequence Deletion

Substances

  • CASP14 protein, human
  • Caspases