A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability

Eur J Dermatol. 2023 Aug 1;33(4):426-428. doi: 10.1684/ejd.2023.4512.
No abstract available

MeSH terms

  • Humans
  • Ichthyosis, Lamellar* / complications
  • Ichthyosis, Lamellar* / genetics
  • Intellectual Disability* / complications
  • Intellectual Disability* / genetics
  • Mutation
  • Transglutaminases / genetics

Substances

  • Transglutaminases