Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1

J Dermatol Sci. 2009 Aug;55(2):128-30. doi: 10.1016/j.jdermsci.2009.05.002. Epub 2009 Jun 24.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Codon, Nonsense*
  • Congenital Hypothyroidism / genetics*
  • Congenital Hypothyroidism / pathology
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Humans
  • Ichthyosis, Lamellar / genetics*
  • Ichthyosis, Lamellar / pathology
  • Pedigree
  • Phenotype
  • Severity of Illness Index
  • Transglutaminases / genetics*
  • Tunisia

Substances

  • Codon, Nonsense
  • Transglutaminases
  • transglutaminase 1