Article
Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.
The Journal of clinical endocrinology and metabolism - 1 Mar 2014
Elli Francesca M, de Sanctis Luisa, Bollati Valentina, Tarantini Letizia, Filopanti Marcello, Barbieri Anna Maria, Peverelli Erika, Beck-Peccoz Paolo, Spada Anna, Mantovani Giovanna
Abstract excerpt
CONTEXT: Pseudohypoparathyroidism type I (PHP-I) includes two main subtypes, PHP-Ia and -Ib. About 70% of PHP-Ia patients, who show Albright hereditary osteodystrophy (AHO) associated with resistance toward multiple hormones (PTH/TSH/GHRH/gonadotropins), carry heterozygous mutations in the α-subu...
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