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Complex medical history of a patient with a compound heterozygous mutation in C1QC.

R LubbersL J J Beaart-van de VoordeK van LeeuwenM de BoerK A GeldermanM J van den BergA G KetelA SimonJ de ReeT W J HuizingaG M Steup-BeekmanL A Trouw
Published in: Lupus (2019)
The patient described in this case report has a compound heterozygous mutation in C1QC resulting in C1q deficiency.
Keyphrases
  • case report
  • early onset
  • healthcare