Associated Papers
Human inborn errors of the alternative NF-κB pathway.
Le Voyer T et al.
Journal of Human Immunity, 2026
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
Cadieux-Dion M et al.
Bmc Medical Genetics, 2018
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Khandelwal KD et al.
American Journal of Medical Genetics. Part A, 2017
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Leslie EJ et al.
American Journal of Medical Genetics. Part A, 2015
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