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Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder caused by mutations in genes that encode renal tight junction proteins claudin-16 or claudin-19, which are responsible for magnesium and calcium paracellular reabsorption in the thick...
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| Pubblicato in: | Clin Nephrol Case Stud |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Dustri-Verlag Dr. Karl Feistle
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6528384/ https://ncbi.nlm.nih.gov/pubmed/31119091 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5414/CNCS109595 |
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