Supplementary material for "Clinical picture of early infancy PTH resistance syndromes: is it time to improve diagnostic criteria?"

Supplementary data for the manuscript entitled "Clinical picture of early infancy PTH resistance syndromes: is it time to improve diagnostic criteria?".

Supplementary table 1 includes all data retrospectively collected and analyzed for the manuscript. In detail, main clinical and biochemical features of iPPSD/PHP patients (117 patients followed at two European Endocrinology tertiary centers) are reported, focusing on age of onset and age at first detection of major and minor diagnostic criteria. Moreover, the table also includes details on the identified genetic variants and inheritance patterns, where available.

Supplementary table 2 shows clinical presentation leading to medical evaluation in patients with de novo mutations diagnosed before 2 years of age.