Abstract This Consensus Statement covers recommendations for the diagnosis and
management of patients with pseudohypoparathyroidism (PHP) and related disorders …

Objective Disorders caused by impairments in the parathyroid hormone (PTH) signalling
pathway are historically classified under the term pseudohypoparathyroidism (PHP), which …

On binding of parathyroid hormone (PTH) to its receptor, the heptahelical PTH/PTHrP
receptor (PTH1R), leads to dissociation of Gsa (encoded by GNAS), the alphasubunit of the …

Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the
underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G …

The cyclic adenosine monophosphate (cAMP) intracellular signaling pathway mediates the
physiological effects of several hormones and neurotransmitters, acting by the activation of …

The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical
and genetic variability and the main clinical features are thoracic hypoplasia and short …

Metabolic disorders caused by impairments of the Gsα/cAMP/PKA pathway affecting the
signaling of PTH/PTHrP lead to features caused by non-responsiveness of target organs, in …

Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance,
derives from a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key …

Acrodysostosis (MIM 101800) is a dominantly inherited condition associating (1) skeletal
features (short stature, facial dysostosis, and brachydactyly with cone-shaped epiphyses),(2) …

Abstract Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia
characterized by short stature, severe brachydactyly and facial dysostosis, is caused by …