Targeted long-read sequencing identifies a retrotransposon insertion as a cause of altered GNAS exon A/B methylation in a family with autosomal dominant pseudohypoparathyroidism type 1b (PHP1B)

Miller DE, Hanna P, Galey M, Reyes M, Linglart A, Eichler EE, Jüppner H. (2022). Targeted long-read sequencing identifies a retrotransposon insertion as a cause of altered GNAS exon A/B methylation in a family with autosomal dominant pseudohypoparathyroidism type 1b (PHP1B). J Bone Miner Res Sep;37(9):1711-1719.