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

Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia
due to resistance to parathyroid hormone (PTH). Patients with PHP-Ia often present with …

The GNAS complex locus encodes the alpha-subunit of the stimulatory G protein (Gsα), a
ubiquitous signaling protein mediating the actions of many hormones, neurotransmitters, and …

Hypophosphatemia is a genetically heterogeneous disease. Here, we mapped an autosomal
recessive form (designated ARHP) to chromosome 4q21 and identified homozygous …

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of
autosomal recessive inheritance that was first described in a large consanguineous Bedouin …

Patients with pseudohypoparathyroidism type Ib (PHP-Ib) have hypocalcemia and
hyperphosphatemia due to renal parathyroid hormone (PTH) resistance, but lack physical features of …

Epigenetic defects in the imprinted GNAS cluster are associated with pseudohypoparathyroidism
type Ib. In two kindreds with this disorder, we now report deletions that remove the …

… The pedigree (kindred W) and the clinical and laboratory data of most members of this
family have been described elsewhere (Bastepe et al. 2001b) (see also fig. 2A). …

Infantile cortical hyperostosis (Caffey disease) is characterized by spontaneous episodes of
subperiosteal new bone formation along 1 or more bones commencing within the first 5 …

… rows) that are derived from the nonmethylated promoter regions upstream of exons XL, AS,
and A/B, whereas the transcript that encodes NESP55 is derived from the maternal allele (M). …