A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex

Clin Exp Dermatol. 2023 Jul 7;48(7):840-843. doi: 10.1093/ced/llad102.
No abstract available

MeSH terms

  • Humans
  • Hypotrichosis* / genetics
  • Mutation, Missense
  • Pedigree
  • Ribosomal Proteins

Substances

  • ribosomal protein L21
  • Ribosomal Proteins

Supplementary concepts

  • Hypotrichosis simplex