Albright's hereditary osteodystrophy

CONTEXT The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1-13 and… Expand

Pseudohypoparathyroidism (PHP) is a heterogeneous disease characterized by PTH resistance and classified as types Ia, Ib, Ic, and… Expand

Albright hereditary osteodystrophy (AHO) results from heterozygous inactivation of G(s)alpha, encoded by the GNAS1 locus on the… Expand

The heterotrimeric G protein G(s) couples hormone receptors (as well as other receptors) to the effector enzyme adenylyl cyclase… Expand

Inactivating and activating mutations in the gene encoding G alpha s (GNAS1) are known to be the basis for 2 well-described… Expand

We report five patients with a combination of brachymetaphalangia and mental retardation, similar to that observed in Albright… Expand

Albright hereditary osteodystrophy (AHO) is a condition with characteristic physical findings (short stature, obesity, round face… Expand

Albright hereditary osteodystrophy (AHO) is an autosomal-dominant disorder characterized by decreased expression of Gs alpha and… Expand

Albright hereditary osteodystrophy (AHO) is an inherited disorder associated with deficient activity of the alpha-subunit of the… Expand

Several heterozygous mutations within the gene encoding the alpha-subunit of Gs (GNAS1), the G protein that stimulates adenylyl… Expand