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Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis with Novel Mutation
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in genes coding for tight junction proteins claudin-16 and claudin-19. It is characterized by renal wasting of magnesium and calcium associated with the developm...
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| Publié dans: | Indian J Nephrol |
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| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Medknow Publications & Media Pvt Ltd
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6375017/ https://ncbi.nlm.nih.gov/pubmed/30814796 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijn.IJN_323_17 |
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