Chinese nontwin sisters suffer from poikiloderma with neutropenia harboring novel compound heterozygous USB1 gene mutations

J Dermatol. 2023 Sep;50(9):e278-e279. doi: 10.1111/1346-8138.16782. Epub 2023 Mar 20.
No abstract available

Publication types

  • Letter

MeSH terms

  • East Asian People
  • Female
  • Humans
  • Mutation
  • Neutropenia* / diagnosis
  • Neutropenia* / genetics
  • Phosphoric Diester Hydrolases
  • Siblings
  • Skin Abnormalities* / genetics

Substances

  • Phosphoric Diester Hydrolases
  • USB1 protein, human

Supplementary concepts

  • Poikiloderma with Neutropenia