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- W2315847851 abstract "BACKGROUND: Pseudohypoparathyrodism (PHP) is a disorder characterized by resistance to hormones that ordinarily act via Gs-coupled protein receptors to activate adenylyl cyclase, including parathyroid hormone (PTH). Other characteristics of PHP include short stature, a round face, subcutaneous ossifications, brachydactyly and obesity PHP is caused by mutations in GNAS, which codes for the Gsα protein. In this study, we sought to determine the genetic origin of PHP in 1 affected family This family consisted of 2 sons diagnosed with PHP and affected with obesity from childhood. A thorough review of the literature was also conducted in order to understand the molecular mechanisms by which mutations in GNAS may cause obesity." @default.
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- W2315847851 date "2008-01-01" @default.
- W2315847851 modified "2023-10-05" @default.
- W2315847851 title "Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: somatic and gonadal mosaicism in a mother with 2 affected sons" @default.
- W2315847851 doi "https://doi.org/10.1016/s1499-2671(08)24294-2" @default.
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