A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene

Am J Med Genet A. 2009 Jul;149A(7):1550-4. doi: 10.1002/ajmg.a.32768.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amnion / pathology*
  • Chorion / pathology*
  • Codon, Nonsense / physiology
  • Fatal Outcome
  • Female
  • Fetal Membranes, Premature Rupture / diagnosis*
  • Fetal Membranes, Premature Rupture / genetics
  • Fetal Membranes, Premature Rupture / pathology
  • Homozygote
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis
  • Membrane Proteins / genetics*
  • Metalloendopeptidases / genetics*
  • Pregnancy
  • Skin Diseases, Genetic / complications*

Substances

  • Codon, Nonsense
  • Membrane Proteins
  • Metalloendopeptidases
  • ZMPSTE24 protein, human