Congenital hyperinsulinism and novel KDM6A duplications -resolving pathogenicity with genome and epigenetic analyses.
Männistö, Jonna M E; Hopkins, Jasmin J; Hewat, Thomas I; Nasser, Fatima; Burrage, Joseph; Dastamani, Antonia; Mirante, Alice; Murphy, Nuala; Rzasa, Jessica; Kerkhof, Jennifer; Relator, Raissa; Johnson, Matthew B; Laver, Thomas W; Weymouth, Luke; Houghton, Jayne A L; Wakeling, Matthew N; Sadikovic, Bekim; Dempster, Emma L; Flanagan, Sarah E
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