Mandibuloacral dysplasia type B in an infant: a rare progeroid genodermatosis

JAMA Dermatol. 2015 May;151(5):561-2. doi: 10.1001/jamadermatol.2014.5068.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics
  • Humans
  • Infant
  • Lipodystrophy / diagnosis*
  • Lipodystrophy / genetics
  • Male
  • Membrane Proteins / genetics
  • Metalloendopeptidases / genetics
  • Mutation
  • Rare Diseases

Substances

  • Membrane Proteins
  • Metalloendopeptidases
  • ZMPSTE24 protein, human

Supplementary concepts

  • Mandibuloacral dysplasia with type B lipodystrophy