Familial hypocalciuric hypercalcemia other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q.

Other Diagnostic Studies

DNA sequencing test may be helpful in the diagnosis of FHH. The test detects mutations including point mutations, deletions, insertions, and rearrangements in the coding sequences of CASR.[1][2]

References

  1. "The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families - Nature Genetics".
  2. "Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism - ScienceDirect".

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