Review
[GNAS1 gene abnormality in pseudohypoparathyroidism I a]
[Article in
Japanese]
Affiliations
- PMID: 17660618
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Review
[GNAS1 gene abnormality in pseudohypoparathyroidism I a]
[Article in
Japanese]
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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