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Endocrine Abstracts

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ea0026p542 | Bone/calcium/Vitamin D | ECE2011

Pseudohypoparathyroidism and GNAS epigenetic alterations: quantitative analysis of methylation defects and correlation with clinical characteristics

Elli F M , Barbieri A M , de Sanctis L , Bollati V , Beck-Peccoz P , Spada A , Mantovani G

The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1–13 and methylation defects in the imprinted GNAS cluster, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO) and resistance toward multiple hormones (PTH/TSH/GHRH/gonadotropins), whereas PHP-Ib patients classically display hormone resistance limited to PTH and TSH. Incoming data suggest that the two diseases share more genetic and clini...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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