A second case of Okamoto syndrome caused by HNRNPK mutation

Am J Med Genet A. 2020 Jun;182(6):1537-1539. doi: 10.1002/ajmg.a.61568. Epub 2020 Mar 28.
No abstract available

Publication types

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

MeSH terms

  • Heterogeneous-Nuclear Ribonucleoprotein K*
  • Humans
  • Mutation
  • Syndrome

Substances

  • Heterogeneous-Nuclear Ribonucleoprotein K
  • HNRNPK protein, human