In her study Elisabeth Salzer describes three novel monogenic diseases. Although all patients shared the same causative missense mutation, they displayed diverse clinical presentations. In another patient she was able to identify a mutation in PRKCD resulting in a primary immunodeficiency with severe Lupus-like autoimmunity.
In her study Elisabeth Salzer describes three novel monogenic diseases. Although all patients shared the same causative missense mutation, they displa...
