Clinical utility gene card for: 3-M syndrome - update 2013

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.156. Epub 2013 Jul 31.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / genetics
  • Cullin Proteins / genetics
  • Cytoskeletal Proteins / genetics
  • Dwarfism / diagnosis*
  • Dwarfism / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Muscle Hypotonia / diagnosis*
  • Muscle Hypotonia / genetics*
  • Phenotype
  • Spine / abnormalities*

Substances

  • CCDC8 protein, human
  • CUL7 protein, human
  • Carrier Proteins
  • Cullin Proteins
  • Cytoskeletal Proteins
  • OBSL1 protein, human

Supplementary concepts

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