ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab 2018;103:158-168Defects at the GNAS locus give rise to various phenotypes, several of which are associated with subcutaneous ossifications (SCOs), which cause significant morbidity among the affected individuals. A subgroup of patients with paternally inherited GNAS mutations have progressive osseous heteroplasia (POH), characterized by severe he...