Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

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 P...

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Bibliographic Details
Main Authors: Benedetta Izzi, Inge Francois, Veerle Labarque, Chantal Thys, Christine Wittevrongel, Koen Devriendt, Eric Legius, Annick Van den Bruel, Marc D'Hooghe, Diether Lambrechts, Francis de Zegher, Chris Van Geet, Kathleen Freson
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3367970?pdf=render

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http://europepmc.org/articles/PMC3367970?pdf=render

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