Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome

Br J Dermatol. 2014 Apr;170(4):976-8. doi: 10.1111/bjd.12724.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Alopecia / genetics*
  • Cholangitis, Sclerosing / genetics*
  • Claudin-1 / deficiency*
  • Claudin-1 / genetics
  • Codon, Nonsense / genetics*
  • Female
  • Homozygote
  • Humans
  • Ichthyosis / genetics*
  • Infant
  • Leukocyte Disorders / genetics*
  • Male
  • Pedigree

Substances

  • CLDN1 protein, human
  • Claudin-1
  • Codon, Nonsense

Supplementary concepts

  • Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis