A novel MBTPS2 start codon mutation causes a mild ichthyosis follicularis with atrichia and photophobia phenotype

Clin Exp Dermatol. 2020 Jun;45(4):505-507. doi: 10.1111/ced.14114. Epub 2019 Oct 24.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alopecia / diagnosis
  • Alopecia / genetics*
  • Alopecia / pathology
  • Asian People / ethnology
  • Child, Preschool
  • Codon, Initiator / genetics*
  • Female
  • Heterozygote
  • Humans
  • Ichthyosis / diagnosis
  • Ichthyosis / genetics*
  • Ichthyosis / pathology
  • Male
  • Metalloendopeptidases / metabolism*
  • Mutation
  • Mutation, Missense
  • Parents
  • Phenotype
  • Photophobia / diagnosis
  • Photophobia / genetics*
  • Photophobia / pathology

Substances

  • Codon, Initiator
  • Metalloendopeptidases
  • MBTPS2 protein, human

Supplementary concepts

  • Ichthyosis follicularis atrichia photophobia syndrome