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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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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2013
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| Soggetti: | |
| Accesso online: | 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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