Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation

J Invest Dermatol. 2014 Apr;134(4):1152-1154. doi: 10.1038/jid.2013.444. Epub 2013 Oct 24.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cataract / complications
  • Cataract / genetics
  • Cohort Studies
  • Complement C1q / genetics*
  • Erythema / complications
  • Erythema / genetics
  • Exons
  • Glomerulonephritis / complications
  • Glomerulonephritis / diagnosis*
  • Glomerulonephritis / genetics*
  • Glycine / chemistry
  • Homozygote
  • Humans
  • Introns
  • Male
  • Mutation
  • Phenotype
  • Rothmund-Thomson Syndrome / complications
  • Rothmund-Thomson Syndrome / diagnosis*
  • Rothmund-Thomson Syndrome / genetics*
  • Serine / chemistry
  • Skin Diseases / complications
  • Skin Diseases / genetics
  • Spain

Substances

  • Serine
  • Complement C1q
  • Glycine