The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome

Clin Genet. 2022 May;101(5-6):575-576. doi: 10.1111/cge.14124. Epub 2022 Feb 22.
No abstract available

Publication types

  • Letter

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Chromosome Deletion
  • Chromosomes, Human, Pair 17
  • Humans
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics

Supplementary concepts

  • Chromosome 17q21.31 Deletion Syndrome