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Title: Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction
Authors: Izzi, Benedetta ×
Francois, Inge
Labarque, Veerle
Thys, Chantal
Wittevrongel, Christine
Devriendt, Koenraad
Legius, Eric
Van den Bruel, Annick
D'Hooghe, Marc
Lambrechts, Diether
de Zegher, Francis
Van Geet, Chris
Freson, Kathleen #
Issue Date: Jun-2012
Publisher: Public Library of Sciene
Series Title: PLoS One vol:7 issue:6 pages:e38579
Article number: e38579
Abstract: 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 Hereditary Osteodystrophy (AHO) due to maternally inherited GNAS mutations or similar epigenetic defects as found for PHP-Ib. Pseudopseudohypoparathyroidism (PPHP) patients with an AHO phenotype and no hormone resistance and progressive osseous heteroplasia (POH) cases have inactivating paternally inherited GNAS mutations.
URI: 
ISSN: 1932-6203
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Translational Genetics (Vesalius Research Center) (+)
Department of Cardiovascular Sciences - miscellaneous
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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