Article
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.
Human mutation - 1 Aug 2013
Maupetit-Méhouas Stéphanie, Azzi Salah, Steunou Virginie, Sakakini Nathalie, Silve Caroline, Reynes Christelle, Perez de Nanclares Guiomar, Keren Boris, Chantot Sandra, Barlier Anne, Linglart Agnès, Netchine Irène
Abstract excerpt
Most patients with pseudohypoparathyroidism type 1b (PHP-1b) display a loss of imprinting (LOI) encompassing the GNAS locus resulting in PTH resistance. In other imprinting disorders, such as Russell-Silver or Beckwith-Wiedemann syndrome, we and others have shown that the LOI is not restricted to...
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