A novel MKRN3 nonsense mutation causing familial central precocious puberty

Endocrine. 2017 May;56(2):446-449. doi: 10.1007/s12020-017-1232-6. Epub 2017 Jan 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Substitution
  • Child
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Fathers
  • Female
  • Heterozygote
  • Humans
  • Pedigree
  • Puberty, Precocious / genetics*
  • Ribonucleoproteins / genetics*
  • Sex Distribution
  • Siblings
  • Ubiquitin-Protein Ligases

Substances

  • Codon, Nonsense
  • Ribonucleoproteins
  • MKRN3 protein, human
  • Ubiquitin-Protein Ligases