A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome

J Hum Genet. 2017 Aug;62(8):739-740. doi: 10.1038/jhg.2017.58. Epub 2017 Jun 1.
No abstract available

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Bone Diseases, Developmental / complications
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / pathology
  • Face / abnormalities*
  • Face / pathology
  • Facies
  • Genetic Variation*
  • Hand Deformities, Congenital / complications
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / pathology
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Micrognathism / complications
  • Micrognathism / genetics*
  • Micrognathism / pathology
  • Neck / abnormalities*
  • Neck / pathology
  • Phenotype
  • Prognosis
  • Repressor Proteins / genetics*
  • Tooth Abnormalities / complications
  • Tooth Abnormalities / genetics*
  • Tooth Abnormalities / pathology

Substances

  • ANKRD11 protein, human
  • Repressor Proteins

Supplementary concepts

  • Coffin-Siris syndrome
  • KBG syndrome