Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations.

@article{Mantovani2000MutationalAO,
  title={Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations.},
  author={Giovanna Mantovani and Roberto Romoli and Giovanna Weber and Valeria Brunelli and Ernesto de Menis and Sabrina Beccio and Paolo Beck-Peccoz and Anna Spada},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2000},
  volume={85 11},
  pages={
          4243-8
        }
}
Pseudohypoparathyroidism (PHP) refers to two major variants that generally coexist in the same family, PHP type Ia (PHP Ia), in which both PTH resistance and a constellation of physical features, termed Albright's hereditary osteodystrophy (AHO), are present, and pseudopseudohypoparathyroidism (PPHP), in which AHO occurs without PTH resistance. Most patients with PHP Ia show a partial deficiency (50%) of Gs activity, due to loss of function mutations in Gsalpha gene (GNAS1). The present study… CONTINUE READING

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Pseudohypoparathyroidism–an example of “Seabright Bantam syndrome.

  • F Albright, CH Burnett, PH Smith, W. Parson
  • 1942
Highly Influential
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