A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature

Clin Genet. 2023 Mar;103(3):377-379. doi: 10.1111/cge.14270. Epub 2022 Dec 1.
No abstract available

Publication types

  • Review
  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Eye Abnormalities*
  • Facies
  • Humans
  • Intellectual Disability*
  • Microcephaly*
  • Ubiquitin-Protein Ligases

Substances

  • UBE3B protein, human
  • Ubiquitin-Protein Ligases

Supplementary concepts

  • Kaufman oculocerebrofacial syndrome