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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375017/ https://www.ncbi.nlm.nih.gov/pubmed/30814796 http://dx.doi.org/10.4103/ijn.IJN_323_17 |