Molecular Genetic Analysis of the Calcium Sensing Receptor Gene in Patients Clinically Suspected to Have Familial Hypocalciuric Hypercalcemia: Phenotypic Variation and Mutation Spectrum in a Danish Population | Zendy

Peter H. Nissen | Zendy; Signe Engkjær Christensen | Zendy; Lene Heickendorff | Zendy; Kim Brixen | Zendy; Leif Mosekilde | Zendy

Open Access

Molecular Genetic Analysis of the Calcium Sensing Receptor Gene in Patients Clinically Suspected to Have Familial Hypocalciuric Hypercalcemia: Phenotypic Variation and Mutation Spectrum in a Danish Population

Author(s) -

Peter H. Nissen,

Signe Engkjær Christensen,

Lene Heickendorff,

Kim Brixen,

Leif Mosekilde

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-0322

Subject(s) - hypocalciuria , calcium sensing receptor , mutation , medicine , endocrinology , phenotype , genotype , population , calcium , genetics , calcium metabolism , gene , biology , chemistry , hypomagnesemia , environmental health , organic chemistry , magnesium

The autosomal dominantly inherited condition familial hypocalciuric hypercalcemia (FHH) is characterized by elevated plasma calcium levels, relative or absolute hypocalciuria, and normal to moderately elevated plasma PTH. The condition is difficult to distinguish clinically from primary hyperparathyroidism and is caused by inactivating mutations in the calcium sensing receptor (CASR) gene.

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