Article
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
The Journal of clinical endocrinology and metabolism - 1 Jun 2007
de Nanclares Guiomar Pérez, Fernández-Rebollo Eduardo, Santin Izortze, García-Cuartero Beatriz, Gaztambide Sonia, Menéndez Edelmiro, Morales Maria Jose, Pombo Manuel, Bilbao José Ramón, Barros Francisco, Zazo Nuria, Ahrens Wiebke, Jüppner Harald, Hiort Olaf, Castaño Luis, Bastepe Murat
Abstract excerpt
CONTEXT: Several endocrine disorders that share resistance to PTH are grouped under the term pseudohypoparathyroidism (PHP). PHP type I, associated with blunted PTH-induced nephrogenous cAMP formation and phosphate excretion, is subdivided according to the presence or absence of additional endocrine abnormalities, Albright's hereditary osteodystrophy (AHO), and reduced Gsalpha activity caused by GNAS mutations....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.