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Paper Details

Dominant negative variants in <i>IKZF2</i> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
2
2023
CD4, CD4 regulatory T cells, Gly153Arg, Helios, ICHAD syndrome, Ikaros family of transcription factors, Ser191dup, T lymphocytes, Tregs, ZF2, athelia, congenital abnormalities, craniofacial anomalies, craniofacial differences, developmental abnormalities, developmental delay, dominant, genetic syndrome, hearing impairment, humans, immune dysregulation, immunodysregulation, sensorineural hearing loss, syndromic features, wild-type Helios protein, zinc, zinc finger protein
Author NameAffiliation
Henry Y LuThe University of British Columbia and BC Children's Hospital
Kim C WorleyBaylor College of Medicine
Kim C WorleyBaylor College of Medicine
Seema R LalaniBaylor College of Medicine
Sara MostafaviThe University of British Columbia
Sara MostafaviThe University of British Columbia
Linlea ArmstrongThe University of British Columbia
Linlea Armstrong
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