Article

Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB

2001-10-15

Abstract excerpt

Hypoparathyroidism is characterized by hypocalcemia, hyperphosphatemia, and absent or markedly reduced circulating concentrations of parathyroid hormone.The transcription factor GCMB is predominantly, if not exclusively, expressed in parathyroid cells and is critical for development of the parathyroid glands in mice.Thus, in the present study we examined the GCMB gene, mapped to 6p23-24, as a candidate for isolate...

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Literature Corpus work: 4495f14a-8638-521d-802d-434e1314c29c
DOI: 10.1172/jci200113180

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