Associated Papers
Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.
Givol O et al.
Human Molecular Genetics, 2026
In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.
Roark CM et al.
Clinical and Experimental Immunology, 2025
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