Rare Inherited Hypomagnesemias — An Endocrine Case Series
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s13312-021-2222-6.pdf
Reference6 articles.
1. Tasic V, Dervisov D, Koceva S, et al. Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. Pediatr Nephrol. 2005;20:1003–6.
2. Claverie-Martin F. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics. Clinical kidney journal. 2015 Dec 1;8:656–64.
3. Weber S, Schneider L, Peters M, et al. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol. 2001; 12:1872–1881.
4. Konrad M, Hou J, Weber S, et al. CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol. 2008; 19:171–81.
5. Gong Y, Renigunta V, Himmerkus N, et al. Claudin-14 regulates renal Ca++ transport in response to CaSR signaling via a novel microRNA pathway. EMBO J. 2012; 31: 1999–2012
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1. Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family;Calcified Tissue International;2023-12-11
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