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Paper Details

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
5
2022
Glu607Val, ID, KCC2, Leu300Ser, PRKWNK3, Pro204Arg, WNK3, WNK3 kinase, WNK3 variants, X-linked ID, X-linked Prieto syndrome, X-linked intellectual disability, chloride, epilepsy, exome, genome sequences, human, intellectual disability, neuronal-specific chloride cotransporter, p, pathogenic missense variants, structural brain abnormalities, structural brain defects, threonine
Author NameAffiliation
Frances Lucy RaymondCambridge Institute for Medical Research, University of Cambridge
Detelina GrozevaCambridge Institute for Medical Research, University of Cambridge, Cardiff University
Eleanor G SeabyBroad Institute of MIT and Harvard, University of Southampton
Wendy K ChungColumbia University Irving Medical Center, Columbia University New York
Wendy K ChungColumbia University Irving Medical Center, Columbia University New York
Sara M BergerDivision of Clinical Genetics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital
Sarah S MillaEmory University
Melanie H CobbUT Southwestern Medical Center
Shozeb HaiderDepartment of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London
Stylianos E AntonarakisSwiss Institute of Genomic Medicine, University of Geneva, Institute of Genetics and Genomics of Geneva
Charles E Schwartz
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