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Table 1 Principal features at diagnosis in the 2 groups of patients with GNAS gene mutations and GNAS locus altered methylation

From: Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption

  N° Subjects Sex: F/M Age Ca (mEq/l) P (mg/dl) PTH (pg/ml) TSH (μU/ml)
Gene mutation 46 29/17 4.8 (0.1–23.4) 4.3 (2.25–6.7) 6.8 (4–12.2) 308 (15.6–1200) 7.8 (1.6–22.1)
Locus altered methylation 28 16/12 10.5 (0.5–65) 3.6 (1.9–9.2) 6.9 (3.6–10.5) 358 (128–1532) 5 (3.36–8.95)
  1. Legend. Sex: Females/Males; Age: median age in years (range); Ca: median total serum Calcium levels (range); P: median serum Phosphate level (range); PTH: median serum PTH (range); TSH: median serum TSH level (range)