ISSN 1662-4009 (online)

Volume 15 | ESPEYB15 | Next issue

Yearbook of Paediatric Endocrinology 2018

5 Bone, Growth Plate and Mineral Metabolism

GNAS and subcutaneous ossifications

ey0015.5-11 | GNAS and subcutaneous ossifications | ESPEYB15

5.11 Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI

P Salemi , JM Skalamera Olson , LE Dickson , EL Germain-Lee

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...