Article
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
PloS one - 1 Jan 2012
Izzi Benedetta, Francois Inge, Labarque Veerle, Thys Chantal, Wittevrongel Christine, Devriendt Koen, Legius Eric, Van den Bruel Annick, D'Hooghe Marc, Lambrechts Diether, de Zegher Francis, Van Geet Chris, Freson Kathleen
Abstract excerpt
BACKGROUND: Pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of hormones that activate Gsalpha, encoded by the imprinted GNAS gene. PHP-Ib patients have isolated Parathormone (PTH) resistance and GNAS epigenetic defects while PHP-Ia cases present with hormone resistance and characteristic features jointly termed as Albright's...
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