Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?

Clin Genet. 2011 Nov;80(5):493-6. doi: 10.1111/j.1399-0004.2011.01672.x.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child
  • Child, Preschool
  • Cholestasis / diagnosis*
  • Cleft Palate / diagnosis*
  • DNA-Binding Proteins / genetics
  • Face / abnormalities
  • Female
  • Follow-Up Studies
  • Hematologic Diseases / diagnosis*
  • Humans
  • Neoplasm Proteins / genetics
  • Retinitis Pigmentosa / diagnosis*
  • Vestibular Diseases / diagnosis*

Substances

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

Supplementary concepts

  • Hardikar syndrome
  • Kabuki syndrome