Clinical utility gene card for: 3M syndrome

Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.32. Epub 2011 Mar 2.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cullin Proteins / genetics*
  • Cytoskeletal Proteins / genetics*
  • Dwarfism / diagnosis
  • Dwarfism / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / genetics*
  • Sensitivity and Specificity
  • Spine / abnormalities

Substances

  • CUL7 protein, human
  • Cullin Proteins
  • Cytoskeletal Proteins
  • OBSL1 protein, human

Supplementary concepts

  • Miller-McKusick-Malvaux-Syndrome (3M Syndrome)