Novel mutation of TRPS1 in a patient with tricho-rhino-phalangeal syndrome

Clin Exp Dermatol. 2021 Apr;46(3):557-559. doi: 10.1111/ced.14430. Epub 2020 Oct 19.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Facies
  • Female
  • Fingers / abnormalities*
  • Foot Deformities, Congenital / genetics*
  • Hair Diseases / genetics*
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Mutation, Missense*
  • Nose / abnormalities*
  • Pedigree
  • Repressor Proteins / genetics*
  • Toes / abnormalities*
  • Young Adult

Substances

  • Repressor Proteins
  • TRPS1 protein, human

Supplementary concepts

  • Trichorhinophalangeal Syndrome, Type III