Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright's Hereditary Osteodystrophy
- 17 May 1990
- journal article
- case report
- Published by Massachusetts Medical Society in The New England Journal of Medicine
- Vol. 322 (20), 1412-1419
- https://doi.org/10.1056/nejm199005173222002
Abstract
Albright's hereditary osteodystrophy is an autosomal dominant disorder characterized by a short stature, brachydactyly, subcutaneous ossifications, and reduced expression or function of the α subunit of the stimulatory G protein (Gsα) of adenylate cyclase, which is necessary for the action of parathyroid and other hormones that use cyclic AMP as an intracellular second messenger.Keywords
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