Novel Mutation in the Calcium-Sensing Receptor Gene Associated With Familial Hypocalciuric Hypercalcemia

Author:

Al Kayed Hadeel A,Islam Saif U,Akanmode Olayemi J,Ezike Lynda A,Mirza Lubna

Publisher

Springer Science and Business Media LLC

Reference7 articles.

1. Familial hypocalciuric hypercalcemia;Afzal M,2024

2. 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;Nissen PH;J Clin Endocrinol Metab,2007

3. Disorders of the calcium sensing signaling pathway: from familial hypocalciuric hypercalcemia (FHH) to life threatening conditions in infancy;Höppner J;J Clin Med,2022

4. ClinVar Miner. Submissions for variant NM_000388.4(CASR).3166G>C (p.Val1056Leu). (2024). Accessed: July 24, 2024: https://clinvarminer.genetics.utah.edu/.

5. Provider FAQs. Technology, quality, & scientific contribution. (2024). Accessed: July 24, 2024: https://www.invitae.com/us/provider-faqs/tech-and-quality.

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