Mandibuloacral dysplasia

Joint Bone Spine. 2014 May;81(3):263. doi: 10.1016/j.jbspin.2013.09.009. Epub 2014 May 1.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / diagnostic imaging*
  • Craniofacial Abnormalities / genetics
  • Female
  • Humans
  • Lamin Type A / genetics
  • Lipodystrophy / diagnosis
  • Lipodystrophy / diagnostic imaging*
  • Lipodystrophy / genetics
  • Radiography

Substances

  • LMNA protein, human
  • Lamin Type A

Supplementary concepts

  • Mandibuloacral dysplasia with type B lipodystrophy