Open AccessA Novel Missense CASR Gene Sequence Variation Resulting in Familial Hypocalciuric Hypercalcemia
Author(s) -
Panagiotis Bletsis,
Rosemarie Metzger,
J. Alex Nelson,
Justin Gasparini,
Mahmoud Alsayed,
Mira Milas
Publication year - 2022
Publication title -
aace clinical case reports
Language(s) - Uncategorized
Resource type - Journals
ISSN - 2376-0605
DOI - 10.1016/j.aace.2022.05.002
Subject(s) - medicine , missense mutation , primary hyperparathyroidism , hypocalciuria , genetic testing , parathyroidectomy , referral , sequence (biology) , bioinformatics , mutation , genetics , parathyroid hormone , gene , family medicine , biology , hypomagnesemia , calcium , materials science , metallurgy , magnesium
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