Bone turnover markers (BTMs) are used widely, in both research and clinical practice. In the
last 20 years, much experience has been gained in measurement and interpretation of these …

Puberty is a major maturational event; its mechanisms and timing are driven by genetic
determinants, but also controlled by endogenous and environmental cues. Substantial …

Objective Most pituitary tumours occur sporadically without a genetically identifiable
germline abnormality, a small but increasing proportion present with a genetic defect that …

Bone formation starts near the end of the embryonic stage of development and continues
throughout life during bone modeling and growth, remodeling, and when needed …

Fibrous dysplasia (FD) is a rare, non-hereditary skeletal disorder characterized by its chronic
course of non-neoplastic fibrous tissue buildup in place of healthy bone. A myriad of factors …

Genetic defects of GNAS, the imprinted gene encoding the stimulatory G protein α-subunit,
are responsible for multiple diseases. Abnormal GNAS imprinting causes …

Introduction Fibrous dysplasia of bone (FD) is a rare congenital bone disease, due to a
somatic mutation of GNAS. This mutation results in a defect of osteoblast differentiation and …

Denosumab (Dmab) treatment can benefit patients with fibrous dysplasia/McCune‐Albright
syndrome (FD/MAS) by suppressing the receptor activator of nuclear factor κB ligand …

Denosumab has been advocated as a potential treatment for the rare skeletal disorder
fibrous dysplasia (FD); however, there is limited data to support safety and efficacy …

ABSTRACT Fibrous dysplasia/McCune‐Albright syndrome (FD/MAS) is a rare mosaic bone
and endocrine disorder. Although most variants affect the GNAS R201 codon, obtaining a …