A Novel Missense <i>CASR</i> Gene Sequence Variation Resulting in Familial Hypocalciuric Hypercalcemia.

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第一作者： Panagiotis,Bletsis

第一单位： Division of Endocrine Surgery, Department of Surgery, Banner University Medical Center Phoenix/University of Arizona College of Medicine Phoenix.

作者： Panagiotis,Bletsis ^[1] ; Rosemarie,Metzger ^[1] ; J Alex,Nelson ^[1] ; Justin,Gasparini ^[2] ; Mahmoud,Alsayed ^[3] ; Mira,Milas ^[1]

作者单位： Division of Endocrine Surgery, Department of Surgery, Banner University Medical Center Phoenix/University of Arizona College of Medicine Phoenix. ^[1] Department of Clinical Cancer Genetics, Banner MD Anderson Cancer Center Phoenix. ^[2] Division of Endocrinology, Department of Internal Medicine, Banner University Medical Center Phoenix/University of Arizona College of Medicine Phoenix. ^[3]

关键词 CCCR, calcium creatinine clearance ratio CaSR, calcium-sensing receptor FHH, familial hypocalciuric hypercalcemia PHPT, primary hyperparathyroidism PTH, parathyroid hormone RR, reference range Sherloc classification system VUS, variant of unknown significance familial hypocalciuric hypercalcemia (FHH)genetic testing primary hyperparathyroidism (PHPT)

DOI 10.1016/j.aace.2022.05.002

PMID 36189134

发布时间 2022-10-04

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AACE clinical case reports

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A Novel Missense <i>CASR</i> Gene Sequence Variation Resulting in Familial Hypocalciuric Hypercalcemia.

AACE clinical case reports

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A Novel Missense <i>CASR</i> Gene Sequence Variation Resulting in Familial Hypocalciuric Hypercalcemia.

AACE clinical case reports

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AACE clinical case reports

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