Associated Papers
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Mohajeri A et al.
Journal of Medical Genetics, 2023
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Shahin T et al.
Blood Advances, 2022
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