Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis: Phenotype–Genotype Correlation and Outcome in 32 Patients with CLDN16 or CLDN19 Mutations

BACKGROUND AND OBJECTIVES: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease. It is caused by mutations in CLDN16 and CLDN19, encoding claudin-16 and -19, respectively. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis...

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Main Authors: Godron, Astrid, Harambat, Jérôme, Boccio, Valérie, Mensire, Anne, May, Adrien, Rigothier, Claire, Couzi, Lionel, Barrou, Benoit, Godin, Michel, Chauveau, Dominique, Faguer, Stanislas, Vallet, Marion, Cochat, Pierre, Eckart, Philippe, Guest, Geneviève, Guigonis, Vincent, Houillier, Pascal, Blanchard, Anne, Jeunemaitre, Xavier, Vargas-Poussou, Rosa
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society of Nephrology 2012
Ábhair:
Original Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3338284/
https://ncbi.nlm.nih.gov/pubmed/22422540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.12841211
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