Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance

Am J Med Genet A. 2022 May;188(5):1623-1625. doi: 10.1002/ajmg.a.62679. Epub 2022 Feb 7.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Bone Diseases, Developmental* / genetics
  • Facies
  • Humans
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics
  • Methyltransferases / genetics
  • Phenotype
  • Tooth Abnormalities* / genetics

Substances

  • Methyltransferases
  • SETD5 protein, human

Supplementary concepts

  • KBG syndrome