Familial hypocalciuric hypercalcemia other diagnostic studies

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Familial hypocalciuric hypercalcemia Microchapters

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

Overview

There are no other diagnostic studies associated with [disease name].

OR

[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].

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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