Browsing Faculty Publications (CoM) by Subject "18q- syndrome"
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A patient with Pitt-Hopkins syndrome with concomitant common variable immunodeficiency
(2023-11)Abstract: In patients with 18q deletion syndrome (18q-), immunodeficiency, autoimmunity, and allergies have been described in a subset. Pitt-Hopkins syndrome represents a specific subset of patients with 18q- who have a ...