Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome

J Genet. 2015 Sep;94(3):489-92. doi: 10.1007/s12041-015-0544-7.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alopecia / genetics*
  • Arrhythmias, Cardiac / genetics*
  • Basal Ganglia Diseases / genetics*
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • Diabetes Mellitus / genetics*
  • Family
  • Female
  • Frameshift Mutation / genetics*
  • Heterozygote
  • Humans
  • Hypogonadism / genetics*
  • India
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Molecular Sequence Data
  • Nuclear Proteins / genetics*
  • Ubiquitin-Protein Ligase Complexes / genetics*

Substances

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

Supplementary concepts

  • Woodhouse Sakati syndrome