A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome

Acta Derm Venereol. 2018 Apr 27;98(5):534-535. doi: 10.2340/00015555-2883.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chondrodysplasia Punctata / diagnosis
  • Chondrodysplasia Punctata / genetics*
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Humans
  • Intestines / abnormalities*
  • Male
  • Mosaicism*
  • Mutation*
  • Phenotype
  • Skin Abnormalities / diagnosis
  • Skin Abnormalities / genetics*
  • Smoothened Receptor / genetics*
  • Syndactyly / diagnosis
  • Syndactyly / genetics*

Substances

  • SMO protein, human
  • Smoothened Receptor

Supplementary concepts

  • Winter Shortland Temple syndrome