Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.

@article{Mantovani2010PseudohypoparathyroidismAG,
  title={Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.},
  author={Giovanna Mantovani and Luisa de Sanctis and Anna Maria Barbieri and Francesca Marta Elli and Valentina Bollati and Valentina Vaira and Pamela Labarile and Sara Bondioni and E Peverelli and Andrea Gerardo Antonio Lania and Paolo Beck-Peccoz and Anna Spada},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2010},
  volume={95 2},
  pages={651-8}
}
CONTEXT 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 PTH and additional hormones, whereas PHP-Ib patients do not have AHO, and hormone resistance appears to be limited to PTH and TSH. Recently, methylation defects have been detected in few patients with PHP and mild AHO… CONTINUE READING
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