Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family

Clin Dysmorphol. 2016 Oct;25(4):181-5. doi: 10.1097/MCD.0000000000000127.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Eyelid Diseases / diagnosis*
  • Eyelid Diseases / genetics*
  • Facies
  • Female
  • Hirsutism / diagnosis*
  • Hirsutism / genetics*
  • Humans
  • Hypertelorism / diagnosis*
  • Hypertelorism / genetics*
  • Hypertrichosis / diagnosis*
  • Hypertrichosis / genetics*
  • India
  • Infant
  • Macrostomia / diagnosis*
  • Macrostomia / genetics*
  • Male
  • Mosaicism*
  • Mutation
  • Paternal Inheritance*
  • Pedigree
  • Phenotype
  • Skin Abnormalities / diagnosis*
  • Skin Abnormalities / genetics*

Supplementary concepts

  • Barber Say syndrome