Sporadic pseudohypoparathyroidism type Ib with TSH resistance: Identification of methylation defects within the GNAS gene

Endocrinologist

Volumn 17, Issue 3, 2007, Pages 179-183

  Yamamoto, Asako ^a   Moriwaki, Yuji ^a   Inokuchi, Taku ^a   Ka, Tsuneyoshi ^a   Takahashi, Sumio ^a   Tsutsumi, Zenta ^a   Yamamoto, Tetsuya ^a  

^a HYOGO COLLEGE OF MEDICINE   (Japan)

Author keywords

GNAS gene; Hypocalcemia; Methylation; Pseudohypoparathyroidism

Indexed keywords

ALFACALCIDOL; CALCIUM; CYCLIC AMP; GENOMIC DNA; PARATHYROID HORMONE; PHOSPHATE; THYROTROPIN;

ADULT; CALCIUM BLOOD LEVEL; CASE REPORT; DNA DETERMINATION; GENE; GENE LOSS; GENE MUTATION; GENETIC ANALYSIS; GNAS GENE; HUMAN; HYPOCALCEMIA; MALE; PARATHYROID HORMONE BLOOD LEVEL; PATIENT REFERRAL; PHOSPHATE BLOOD LEVEL; PSEUDOHYPOPARATHYROIDISM; REVIEW; THYROTROPIN BLOOD LEVEL; URINARY EXCRETION;

EID: 34248996549     PISSN: 10512144     EISSN: None     Source Type: Journal    
DOI: 10.1097/TEN.0b013e31806b5f7a     Document Type: Review

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