A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis

BACKGROUND: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis is a rare tubulopathy leading to renal calcification and progressive renal failure. CASE PRESENTATION: We report a consanguineous Arab family (of Qatari origin) with 7 affected siblings with variable phenotypes including h...

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Hlavní autoři: Deeb, Asma, Abood, Salima Atia, Simon, Job, Dastoor, Hormazdiar, Pearce, Simon HS, Sayer, John A
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3867415/
https://ncbi.nlm.nih.gov/pubmed/24321194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-6-527
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