[GNAS1 gene abnormality in pseudohypoparathyroidism I a].
Clin Calcium
; 17(8): 1214-9, 2007 Aug.
Article
in Ja
| MEDLINE
| ID: mdl-17660618
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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Database:
MEDLINE
Main subject:
Pseudohypoparathyroidism
/
GTP-Binding Protein alpha Subunits, Gs
/
Mutation
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
Ja
Year:
2007
Type:
Article