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Review
. 2007 Aug;17(8):1214-9.

[GNAS1 gene abnormality in pseudohypoparathyroidism I a]

[Article in Japanese]
Keiichi Ozono  1
Affiliations
  • PMID: 17660618
Review

[GNAS1 gene abnormality in pseudohypoparathyroidism I a]

[Article in Japanese]
Keiichi Ozono. Clin Calcium. 2007 Aug.

Abstract

Pseudophypoparathyroidism (PHP) is characterized by hypocalcemia, hyperphosphatemia and elevated levels of parathyroid hormone (PTH) due to resistance to PTH. PHP type I a is caused by heterozygous inactivating mutation of the GNAS1 gene, which encodes signal transducer, Gsalpha. PHP type I a is associated with Albright's osteodystrophy (AHO). Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism.

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