Novel compound heterozygous indel ZMPSTE24 mutations in a Taiwanese male infant with restrictive dermopathy

J Dermatol. 2022 Aug;49(8):e280-e282. doi: 10.1111/1346-8138.16404. Epub 2022 May 2.
No abstract available

Publication types

  • Letter

MeSH terms

  • Humans
  • Infant
  • Lamin Type A / genetics
  • Male
  • Membrane Proteins / genetics
  • Metalloendopeptidases* / genetics
  • Mutation
  • Skin Abnormalities* / genetics

Substances

  • Lamin Type A
  • Membrane Proteins
  • Metalloendopeptidases
  • ZMPSTE24 protein, human