Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Pseudohypoparathyroidism type IB (PHPIB) is characterized by renal resistance to parathyroid hormone without other endocrine or renal abnormalities.
Clinical symptoms of pseudohypoparathyroidism typ 1 B are hypocalcemia, hyperphosphatemia, increased serum PTH, and a decreased response of urinary cAMP to administered PTH.
Pseudohypoparathyroidism type 1b is associated with a paternal-specific imprinting pattern on both alleles.
Pseudohypoparathyroidism
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Albright hereditary osteodystrophy
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Pseudohypoparathyroidism type IB
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GNAS
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STX16
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