A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family

J Dermatol. 2019 Nov;46(11):e393-e395. doi: 10.1111/1346-8138.15010. Epub 2019 Jul 19.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alopecia / diagnosis
  • Alopecia / genetics
  • Amino Acid Substitution
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Exome Sequencing
  • Female
  • Genetic Testing
  • Hair Follicle / abnormalities
  • Heterozygote
  • Humans
  • Hypotrichosis / diagnosis
  • Hypotrichosis / genetics*
  • Intramolecular Transferases / genetics*
  • Mutation
  • Polymorphism, Single Nucleotide
  • Skin Diseases, Vesiculobullous / diagnosis
  • Skin Diseases, Vesiculobullous / genetics
  • Transcription Factors / genetics
  • Young Adult

Substances

  • HR protein, human
  • Transcription Factors
  • Intramolecular Transferases
  • lanosterol synthase

Supplementary concepts

  • Atrichia with Papular Lesions