A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review

Int J Dermatol. 2023 Sep;62(9):1164-1167. doi: 10.1111/ijd.16630. Epub 2023 Mar 7.
No abstract available

Publication types

  • Review
  • Case Reports

MeSH terms

  • Acyltransferases / genetics
  • East Asian People
  • Focal Dermal Hypoplasia* / diagnosis
  • Focal Dermal Hypoplasia* / genetics
  • Humans
  • Membrane Proteins / genetics
  • Mutation
  • Sequence Deletion

Substances

  • Acyltransferases
  • PORCN protein, human
  • Membrane Proteins