Congenital hyperinsulinism and novel KDM6A duplications -resolving pathogenicity with genome and epigenetic analyses.
Männistö JME, Hopkins JJ, Hewat TI, Nasser F, Burrage J, Dastamani A, Mirante A, Murphy N, Rzasa J, Kerkhof J, Relator R, Johnson MB, Laver TW, Weymouth L, Houghton JAL, Wakeling MN, Sadikovic B, Dempster EL, Flanagan SE.
Männistö JME, et al. Among authors: mirante a.
J Clin Endocrinol Metab. 2024 Jul 30:dgae524. doi: 10.1210/clinem/dgae524. Online ahead of print.
J Clin Endocrinol Metab. 2024.
PMID: 39078990