Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation?

Am J Med Genet A. 2015 Jan;167A(1):259-60. doi: 10.1002/ajmg.a.36804. Epub 2014 Oct 22.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Base Sequence
  • CHARGE Syndrome / complications*
  • CHARGE Syndrome / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics
  • Face / abnormalities*
  • Female
  • Hematologic Diseases / complications*
  • Hematologic Diseases / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics
  • Pedigree
  • Vestibular Diseases / complications*
  • Vestibular Diseases / genetics

Substances

  • DNA-Binding Proteins
  • KMT2D protein, human
  • Neoplasm Proteins

Supplementary concepts

  • Kabuki syndrome