Article
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.
Italian journal of pediatrics - 21 Nov 2016
de Sanctis L, Giachero F, Mantovani G, Weber G, Salerno M, Baroncelli G I, Elli M F, Matarazzo P, Wasniewska M, Mazzanti L, Scirè G, Tessaris D
Abstract excerpt
BACKGROUND: Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright's Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes...
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