Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia
Abstract Background Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease primarily characterized by resistance to parathyroid hormone along with hormonal resistance and other features of Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations in th...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2018-07-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |