Familial hypocalciuric hypercalcemia type 1 due to a novel homozygous mutation of the calcium-sensing receptor gene-Reference-Cited by-同舟云学术

Familial hypocalciuric hypercalcemia type 1 due to a novel homozygous mutation of the calcium-sensing receptor gene

Published:2017-06-15 Issue:11 Volume:40 Page:1271-1272
ISSN:1720-8386
Container-title:Journal of Endocrinological Investigation
language:en
Short-container-title:J Endocrinol Invest

Author:

Borsari S.,Marcocci C.,Cetani F.

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/article/10.1007/s40618-017-0710-2/fulltext.html

Reference5 articles.

1. Aida K, Koishi S, Inoue M et al (1995) Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2 +)-sensing receptor gene. J Clin Endocrinol Metab 80:2594–2598

2. Chikatsu N, Fukumoto S, Suzawa M et al (1999) An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor. Clin Endocrinol (Oxf) 50:537–543

3. Miyashiro K, Kunii I, Della Manna T et al (2004) Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor. J Clin Endocrinol Metab 89:5936–5941. doi: 10.1210/jc.2004-1046

4. Lietman SA, Tenenbaum-rakover Y, Jap TS et al (2009) A novel loss-of-function, Gln459Arg, of the Calcium-Sensing Receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia. J Clin Endocrinol Metab 94:4372–4379. doi: 10.1210/jc.2008-2484

5. Szczawinska D, Schnabel D, Letz S, Schöfl C (2014) A homozygous CaSR mutation causing a FHH phenotype completely masked by vitamin D deficiency presenting as rickets. J Clin Endocrinol Metab 99:1146–1153. doi: 10.1210/jc.2013-3593

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