Article
Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS.
The Journal of pediatrics - 1 Oct 1993
Shenker A, Weinstein L S, Moran A, Pescovitz O H, Charest N J, Boney C M, Van Wyk J J, Merino M J, Feuillan P P, Spiegel A M
Abstract excerpt
McCune-Albright syndrome (MCAS) is a sporadic disease classically including polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and other hyperfunctional endocrinopathies. An activating missense mutation in the gene for the alpha subunit of GS, the G protein that stimulates cyclic adenosine monophosphate formation, has been reported to be present in these patients. The mutation is found in...
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