1 hasil untuk "Inge Francois"

Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction

Benedetta Izzi; Inge Francois; Veerle Labarque dkk.

PLoS ONE, Vol. 7 No. 6 · 2012 · Inggris · PLOS Scopus

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…