Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome

Eur J Med Genet. 2019 Sep;62(9):103547. doi: 10.1016/j.ejmg.2018.09.014. Epub 2018 Sep 26.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / pathology
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • Female
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / pathology
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Mutation*
  • Repressor Proteins / genetics*
  • Syndrome

Substances

  • Repressor Proteins
  • SIN3A transcription factor