Parathyroid hormone-dependent familial hypercalcemia with low measured PTH levels and a presumptive novel pathogenic mutation in CaSR-Reference-Cited by-同舟云学术

Parathyroid hormone-dependent familial hypercalcemia with low measured PTH levels and a presumptive novel pathogenic mutation in CaSR

Published:2019-10-23 Issue:1 Volume:31 Page:203-207
ISSN:0937-941X
Container-title:Osteoporosis International
language:en
Short-container-title:Osteoporos Int

Author:

Mahajan A.,Buse J.,Kline G.

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1007/s00198-019-05170-9.pdf

Reference26 articles.

1. Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P et al (2000) Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 85(5):2042–2047

2. Thakker RV (2004) Diseases associated with the extracellular calcium-sensing receptor. Cell Calcium 35(3):275–282

3. Christensen SE, Nissen PH, Vestergaard P, Mosekilde L (2011) Familial hypocalciuric hypercalcaemia: a review. Curr Opin Endocrinol Diabetes Obes 18(6):359–370

4. Mastromatteo E, Lamacchia O, Campo MR, Conserva A, Baorda F, Cinque L et al (2014) A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. BMC Endocr Disord 14:81

5. CASRdb Calcium Sensing Receptor Locus Mutation Database [Internet]. Available from: http://www.casrdb.mcgill.ca/?Topic=CasrSeqs2&v=new

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