Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage - coincidental finding or new feature of known syndrome?

Endokrynol Pol. 2019;70(5):457-459. doi: 10.5603/EP.a2019.0032. Epub 2019 Jul 5.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Breakage*
  • Congenital Microtia / diagnosis*
  • Congenital Microtia / genetics
  • Female
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics
  • Humans
  • Micrognathism / diagnosis*
  • Micrognathism / genetics
  • Mutation
  • Origin Recognition Complex*
  • Patella / abnormalities*

Substances

  • ORC1 protein, human
  • Origin Recognition Complex

Supplementary concepts

  • Meier-Gorlin syndrome