Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility

Clin Genet. 2021 Sep;100(3):352-354. doi: 10.1111/cge.14014. Epub 2021 Jun 24.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / pathology
  • Bone and Bones / physiopathology
  • Child
  • Female
  • Humans
  • Male
  • Methyltransferases / genetics*
  • Phenotype

Substances

  • Methyltransferases
  • SETD5 protein, human