A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions. - Urakawa T; Huang H; Nagai T; Hattori A; Kawasaki T; Saitsu H; Akutsu H; Fukami M; Kagami M (Clinical epigenetics, 2026)