A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia

Clin Dysmorphol. 2019 Oct;28(4):219-223. doi: 10.1097/MCD.0000000000000291.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics*
  • Dwarfism / diagnosis*
  • Dwarfism / genetics*
  • Facies
  • Genetic Testing
  • Homozygote*
  • Humans
  • Joint Instability / diagnosis*
  • Joint Instability / genetics*
  • Mutation*
  • Nucleotidases / genetics*
  • Ossification, Heterotopic / diagnosis*
  • Ossification, Heterotopic / genetics*
  • Phenotype
  • Polydactyly / diagnosis*
  • Polydactyly / genetics*
  • Radiography

Substances

  • CANT1 protein, human
  • Nucleotidases

Supplementary concepts

  • Desbuquois syndrome