Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His
Familial hypocalciuric hypercalcemia (FHH) is usually a benign condition divided into three types. FHH-3 occurs in about 20% of the cases and is caused due to missense mutations in AP2S1 (adaptor-related protein complex 2 subunit sigma 1) involving the codon Arg15 (p.R15). We report a case of FHH-3...
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| Main Authors: | , , , |
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| Format: | Book |
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Hindawi Limited,
2020-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |