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Keywords: Autosomal dominant hypocalcemia
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Journal Articles

Novel Calcium-Sensing Receptor ( CASR ) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics

Open Access
Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Women's and Children's Health
Amnon Zung, Galia Barash, Ehud Banne, Michael A. Levine
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2023) 96 (5): 473–482.
https://doi.org/10.1159/000529833
Published Online: 22 February 2023
...Amnon Zung; Galia Barash; Ehud Banne; Michael A. Levine Introduction: Activating mutation of the calcium-sensing receptor gene ( CASR ) reduces parathyroid hormone secretion and renal tubular reabsorption of calcium, defined as autosomal dominant hypocalcemia type 1 (ADH1). Patients with ADH1 may...
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Journal Articles

Mutations in the Calcium-Sensing Receptor and Their Clinical Implications

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Edward M. Brown
Journal: Hormone Research in Paediatrics
Hormone Research (1997) 48 (5): 199–208.
https://doi.org/10.1159/000185516
Published Online: 10 December 2008
... calcium-sensing receptor Familial hypocalciuric hypercalcemia Neonatal severe hyperparathyroidism Autosomal dominant hypocalcemia Parathyroid Kidney Calcium homeostasis Abstract Specialized cells (i.e.. parathyroid chief cells) that sense changes in the extra­ cellular calcium concentration are a key...
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