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Fig. 2 | Clinical Epigenetics

Fig. 2

From: Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases

Fig. 2

Graphs showing methylation ratios (mean blood/saliva/urine replicates ± SD) at each single CpG for investigated subjects grouped as wild type controls (WT ctrls), patients bearing genetic point mutations at the GNAS gene (GNAS mutated), patients affected by methylation defects at all four GNAS DMRs (broad GNAS LOI), and patients with a clinical diagnosis of PHP but no detectable genetic and/or epigenetic GNAS defects (no GNAS defects)

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