Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum

Clin Genet. 2013 Oct;84(4):394-5. doi: 10.1111/cge.12088. Epub 2013 Feb 20.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Base Sequence
  • Calcium Channels
  • Child
  • Consanguinity
  • Exome*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Pedigree
  • Phenotype*
  • Sequence Analysis, DNA
  • Syndrome

Substances

  • Calcium Channels
  • Membrane Proteins
  • TMCO1 protein, human