A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

Clin Genet. 2010 Dec;78(6):594-7. doi: 10.1111/j.1399-0004.2010.01447.x.
No abstract available

Publication types

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

MeSH terms

  • Alopecia / genetics
  • Arrhythmias, Cardiac / genetics
  • Basal Ganglia Diseases
  • Chromosomes, Human, Pair 2 / genetics
  • Diabetes Mellitus / genetics
  • Female
  • Humans
  • Hypogonadism / genetics
  • Intellectual Disability / genetics
  • Italy
  • Male
  • Middle Aged
  • Mutation*
  • Nuclear Proteins / genetics*
  • Open Reading Frames
  • Pedigree
  • Ubiquitin-Protein Ligase Complexes

Substances

  • DCAF17 protein, human
  • Nuclear Proteins
  • Ubiquitin-Protein Ligase Complexes

Supplementary concepts

  • Woodhouse Sakati syndrome