Familial hypocalciuric hypercalcemia other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q. | |||
==Other Diagnostic Studies== | ==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.<ref name="urlThe gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families - Nature Genetics">{{cite web |url=https://www.nature.com/ng/journal/v1/n4/abs/ng0792-295.html |title=The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families - Nature Genetics |format= |work= |accessdate=}}</ref><ref name="urlMutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism - ScienceDirect">{{cite web |url=http://www.sciencedirect.com/science/article/pii/009286749390617Y |title=Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism - ScienceDirect |format= |work= |accessdate=}}</ref> | |||
==References== | ==References== |
Revision as of 17:16, 23 September 2017
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
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]